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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs749992462

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:113641371-113641376 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
delA / dupA
Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.000008 (1/121338, ExAC)
delA=0.0002 (1/4470, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RABL2A : Frameshift Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 4470 AAAAAA=0.9998 AAAAA=0.0002 0.999553 0.0 0.000447 0
European Sub 4462 AAAAAA=0.9998 AAAAA=0.0002 0.999552 0.0 0.000448 0
African Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
African Others Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
African American Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
Asian Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
Latin American 2 Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
South Asian Sub 0 AAAAAA=0 AAAAA=0 0 0 0 N/A
Other Sub 8 AAAAAA=1.0 AAAAA=0.0 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
ExAC Global Study-wide 121338 -

No frequency provided

 dupA=0.000008
ExAC Europe Sub 73306 -

No frequency provided

 dupA=0.00001
ExAC Asian Sub 25150 -

No frequency provided

 dupA=0.00000
ExAC American Sub 11576 -

No frequency provided

 dupA=0.00000
ExAC African Sub 10400 -

No frequency provided

 dupA=0.00000
ExAC Other Sub 906 -

No frequency provided

 dupA=0.000
Allele Frequency Aggregator Total Global 4470 (A)6=0.9998 delA=0.0002
Allele Frequency Aggregator European Sub 4462 (A)6=0.9998 delA=0.0002
Allele Frequency Aggregator Other Sub 8 (A)6=1.0 delA=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)6=0 delA=0
Allele Frequency Aggregator Latin American 2 Sub 0 (A)6=0 delA=0
Allele Frequency Aggregator South Asian Sub 0 (A)6=0 delA=0
Allele Frequency Aggregator African Sub 0 (A)6=0 delA=0
Allele Frequency Aggregator Asian Sub 0 (A)6=0 delA=0
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 2 NC_000002.12:g.113641376del
GRCh38.p14 chr 2 NC_000002.12:g.113641376dup
GRCh37.p13 chr 2 NC_000002.11:g.114398953del
GRCh37.p13 chr 2 NC_000002.11:g.114398953dup
Gene: RABL2A, RAB, member of RAS oncogene family like 2A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RABL2A transcript variant 6 NM_001306161.2:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001293090.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 6 NM_001306161.2:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001293090.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 1 NM_013412.4:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_038198.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 1 NM_013412.4:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_038198.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 23 NM_001354425.2:c.178del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 9 NP_001341354.1:p.Ser60fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 23 NM_001354425.2:c.178dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 9 NP_001341354.1:p.Ser60fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 3 NM_001306158.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001293087.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 3 NM_001306158.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001293087.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 10 NM_001354408.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341337.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 10 NM_001354408.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341337.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 18 NM_001354418.2:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 7 NP_001341347.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 18 NM_001354418.2:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 7 NP_001341347.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 20 NM_001354421.2:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001341350.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 20 NM_001354421.2:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001341350.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 21 NM_001354423.2:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001341352.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 21 NM_001354423.2:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 4 NP_001341352.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 7 NM_001354405.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341334.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 7 NM_001354405.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341334.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 17 NM_001354417.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 6 NP_001341346.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 17 NM_001354417.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 6 NP_001341346.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 16 NM_001354416.2:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_001341345.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 16 NM_001354416.2:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_001341345.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 22 NM_001354424.2:c.238del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 8 NP_001341353.1:p.Ser80fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 22 NM_001354424.2:c.238dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 8 NP_001341353.1:p.Ser80fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 2 NM_007082.5:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_009013.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 2 NM_007082.5:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 1 NP_009013.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 11 NM_001354409.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341338.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 11 NM_001354409.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341338.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 25 NM_001354427.2:c.157del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 11 NP_001341356.1:p.Ser53fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 25 NM_001354427.2:c.157dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 11 NP_001341356.1:p.Ser53fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 13 NM_001354412.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341341.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 13 NM_001354412.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341341.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 4 NM_001306159.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001293088.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 4 NM_001306159.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001293088.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 12 NM_001354410.2:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 3 NP_001341339.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 12 NM_001354410.2:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 3 NP_001341339.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 19 NM_001354419.2:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 7 NP_001341348.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 19 NM_001354419.2:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 7 NP_001341348.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 14 NM_001354413.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341342.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 14 NM_001354413.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341342.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 9 NM_001354407.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341336.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 9 NM_001354407.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341336.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 26 NM_001354428.2:c.154del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 12 NP_001341357.1:p.Ser52fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 26 NM_001354428.2:c.154dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 12 NP_001341357.1:p.Ser52fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 5 NM_001306160.3:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 3 NP_001293089.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 5 NM_001306160.3:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 3 NP_001293089.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 15 NM_001354414.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341343.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 15 NM_001354414.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 2 NP_001341343.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 24 NM_001354426.2:c.178del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 10 NP_001341355.1:p.Ser60fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 24 NM_001354426.2:c.178dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 10 NP_001341355.1:p.Ser60fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 8 NM_001354406.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341335.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant 8 NM_001354406.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform 5 NP_001341335.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant 28 NR_148880.2:n.429del N/A Non Coding Transcript Variant
RABL2A transcript variant 28 NR_148880.2:n.429dup N/A Non Coding Transcript Variant
RABL2A transcript variant 27 NR_148879.2:n.506del N/A Non Coding Transcript Variant
RABL2A transcript variant 27 NR_148879.2:n.506dup N/A Non Coding Transcript Variant
RABL2A transcript variant 29 NR_148881.2:n.513del N/A Non Coding Transcript Variant
RABL2A transcript variant 29 NR_148881.2:n.513dup N/A Non Coding Transcript Variant
RABL2A transcript variant 30 NR_148882.2:n.509del N/A Non Coding Transcript Variant
RABL2A transcript variant 30 NR_148882.2:n.509dup N/A Non Coding Transcript Variant
RABL2A transcript variant X31 XM_047443062.1:c.*337_*34…

XM_047443062.1:c.*337_*342=

 		N/A 3 Prime UTR Variant
RABL2A transcript variant X32 XM_047443063.1:c.*337_*34…

XM_047443063.1:c.*337_*342=

 		N/A 3 Prime UTR Variant
RABL2A transcript variant X5 XM_011510509.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_011508811.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X5 XM_011510509.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_011508811.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X1 XM_047443039.1:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_047298995.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X1 XM_047443039.1:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_047298995.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X2 XM_017003207.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_016858696.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X2 XM_017003207.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_016858696.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X3 XM_047443041.1:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_047298997.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X3 XM_047443041.1:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_047298997.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X4 XM_017003205.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_016858694.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X4 XM_017003205.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X1 XP_016858694.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X6 XM_024452573.2:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X2 XP_024308341.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X6 XM_024452573.2:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X2 XP_024308341.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X7 XM_047443043.1:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X2 XP_047298999.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X7 XM_047443043.1:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X2 XP_047298999.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X8 XM_017003211.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_016858700.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X8 XM_017003211.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_016858700.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X9 XM_017003210.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_016858699.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X9 XM_017003210.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_016858699.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X10 XM_047443044.1:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_047299000.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X10 XM_047443044.1:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X3 XP_047299000.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X11 XM_017003212.2:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X4 XP_016858701.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X11 XM_017003212.2:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X4 XP_016858701.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X12 XM_047443045.1:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299001.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X12 XM_047443045.1:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299001.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X13 XM_017003215.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_016858704.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X13 XM_017003215.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_016858704.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X14 XM_024452575.2:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_024308343.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X14 XM_024452575.2:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_024308343.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X15 XM_047443047.1:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299003.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X15 XM_047443047.1:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299003.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X16 XM_047443048.1:c.433del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299004.1:p.Ser145fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X16 XM_047443048.1:c.433dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X5 XP_047299004.1:p.Ser145fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X17 XM_017003220.2:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_016858709.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X17 XM_017003220.2:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_016858709.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X18 XM_047443049.1:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299005.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X18 XM_047443049.1:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299005.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X19 XM_047443050.1:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299006.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X19 XM_047443050.1:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299006.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X20 XM_047443051.1:c.430del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299007.1:p.Ser144fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X20 XM_047443051.1:c.430dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X6 XP_047299007.1:p.Ser144fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X21 XM_047443052.1:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X7 XP_047299008.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X21 XM_047443052.1:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X7 XP_047299008.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X22 XM_047443053.1:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299009.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X22 XM_047443053.1:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299009.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X23 XM_047443054.1:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299010.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X23 XM_047443054.1:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299010.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X24 XM_047443055.1:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299011.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X24 XM_047443055.1:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299011.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X25 XM_047443056.1:c.241del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299012.1:p.Ser81fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X25 XM_047443056.1:c.241dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X8 XP_047299012.1:p.Ser81fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X26 XM_047443057.1:c.238del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X9 XP_047299013.1:p.Ser80fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X26 XM_047443057.1:c.238dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X9 XP_047299013.1:p.Ser80fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X27 XM_047443058.1:c.193del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X10 XP_047299014.1:p.Ser65fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X27 XM_047443058.1:c.193dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X10 XP_047299014.1:p.Ser65fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X28 XM_047443059.1:c.178del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X11 XP_047299015.1:p.Ser60fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X28 XM_047443059.1:c.178dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X11 XP_047299015.1:p.Ser60fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X29 XM_047443060.1:c.178del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X11 XP_047299016.1:p.Ser60fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X29 XM_047443060.1:c.178dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X11 XP_047299016.1:p.Ser60fs S (Ser) > K (Lys) Frameshift Variant
RABL2A transcript variant X30 XM_047443061.1:c.157del S [AGC] > A [GC] Coding Sequence Variant
rab-like protein 2A isoform X12 XP_047299017.1:p.Ser53fs S (Ser) > A (Ala) Frameshift Variant
RABL2A transcript variant X30 XM_047443061.1:c.157dup S [AGC] > K [AAGC] Coding Sequence Variant
rab-like protein 2A isoform X12 XP_047299017.1:p.Ser53fs S (Ser) > K (Lys) Frameshift Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)6= delA dupA
GRCh38.p14 chr 2 NC_000002.12:g.113641371_113641376= NC_000002.12:g.113641376del NC_000002.12:g.113641376dup
GRCh37.p13 chr 2 NC_000002.11:g.114398948_114398953= NC_000002.11:g.114398953del NC_000002.11:g.114398953dup
RABL2A transcript variant 2 NM_007082.5:c.425_430= NM_007082.5:c.430del NM_007082.5:c.430dup
RABL2A transcript variant 2 NM_007082.4:c.425_430= NM_007082.4:c.430del NM_007082.4:c.430dup
RABL2A transcript variant 2 NM_007082.3:c.425_430= NM_007082.3:c.430del NM_007082.3:c.430dup
RABL2A transcript variant 1 NM_013412.4:c.425_430= NM_013412.4:c.430del NM_013412.4:c.430dup
RABL2A transcript variant 1 NM_013412.3:c.425_430= NM_013412.3:c.430del NM_013412.3:c.430dup
RABL2A transcript variant 1 NM_013412.2:c.425_430= NM_013412.2:c.430del NM_013412.2:c.430dup
RABL2A transcript variant 5 NM_001306160.3:c.425_430= NM_001306160.3:c.430del NM_001306160.3:c.430dup
RABL2A transcript variant 5 NM_001306160.2:c.425_430= NM_001306160.2:c.430del NM_001306160.2:c.430dup
RABL2A transcript variant 5 NM_001306160.1:c.425_430= NM_001306160.1:c.430del NM_001306160.1:c.430dup
RABL2A transcript variant X6 XM_024452573.2:c.425_430= XM_024452573.2:c.430del XM_024452573.2:c.430dup
RABL2A transcript variant X8 XM_024452573.1:c.425_430= XM_024452573.1:c.430del XM_024452573.1:c.430dup
RABL2A transcript variant X17 XM_017003220.2:c.425_430= XM_017003220.2:c.430del XM_017003220.2:c.430dup
RABL2A transcript variant X17 XM_017003220.1:c.425_430= XM_017003220.1:c.430del XM_017003220.1:c.430dup
RABL2A transcript variant 11 NM_001354409.2:c.428_433= NM_001354409.2:c.433del NM_001354409.2:c.433dup
RABL2A transcript variant 11 NM_001354409.1:c.428_433= NM_001354409.1:c.433del NM_001354409.1:c.433dup
RABL2A transcript variant 7 NM_001354405.2:c.428_433= NM_001354405.2:c.433del NM_001354405.2:c.433dup
RABL2A transcript variant 7 NM_001354405.1:c.428_433= NM_001354405.1:c.433del NM_001354405.1:c.433dup
RABL2A transcript variant 15 NM_001354414.2:c.428_433= NM_001354414.2:c.433del NM_001354414.2:c.433dup
RABL2A transcript variant 15 NM_001354414.1:c.428_433= NM_001354414.1:c.433del NM_001354414.1:c.433dup
RABL2A transcript variant X14 XM_024452575.2:c.428_433= XM_024452575.2:c.433del XM_024452575.2:c.433dup
RABL2A transcript variant X16 XM_024452575.1:c.428_433= XM_024452575.1:c.433del XM_024452575.1:c.433dup
RABL2A transcript variant 10 NM_001354408.2:c.428_433= NM_001354408.2:c.433del NM_001354408.2:c.433dup
RABL2A transcript variant 10 NM_001354408.1:c.428_433= NM_001354408.1:c.433del NM_001354408.1:c.433dup
RABL2A transcript variant 14 NM_001354413.2:c.428_433= NM_001354413.2:c.433del NM_001354413.2:c.433dup
RABL2A transcript variant 14 NM_001354413.1:c.428_433= NM_001354413.1:c.433del NM_001354413.1:c.433dup
RABL2A transcript variant X2 XM_017003207.2:c.428_433= XM_017003207.2:c.433del XM_017003207.2:c.433dup
RABL2A transcript variant X6 XM_017003207.1:c.428_433= XM_017003207.1:c.433del XM_017003207.1:c.433dup
RABL2A transcript variant 23 NM_001354425.2:c.173_178= NM_001354425.2:c.178del NM_001354425.2:c.178dup
RABL2A transcript variant 23 NM_001354425.1:c.173_178= NM_001354425.1:c.178del NM_001354425.1:c.178dup
RABL2A transcript variant X5 XM_011510509.2:c.428_433= XM_011510509.2:c.433del XM_011510509.2:c.433dup
RABL2A transcript variant X6 XM_011510509.1:c.428_433= XM_011510509.1:c.433del XM_011510509.1:c.433dup
RABL2A transcript variant 8 NM_001354406.2:c.428_433= NM_001354406.2:c.433del NM_001354406.2:c.433dup
RABL2A transcript variant 8 NM_001354406.1:c.428_433= NM_001354406.1:c.433del NM_001354406.1:c.433dup
RABL2A transcript variant 12 NM_001354410.2:c.425_430= NM_001354410.2:c.430del NM_001354410.2:c.430dup
RABL2A transcript variant 12 NM_001354410.1:c.425_430= NM_001354410.1:c.430del NM_001354410.1:c.430dup
RABL2A transcript variant 9 NM_001354407.2:c.428_433= NM_001354407.2:c.433del NM_001354407.2:c.433dup
RABL2A transcript variant 9 NM_001354407.1:c.428_433= NM_001354407.1:c.433del NM_001354407.1:c.433dup
RABL2A transcript variant X9 XM_017003210.2:c.428_433= XM_017003210.2:c.433del XM_017003210.2:c.433dup
RABL2A transcript variant X9 XM_017003210.1:c.428_433= XM_017003210.1:c.433del XM_017003210.1:c.433dup
RABL2A transcript variant X11 XM_017003212.2:c.425_430= XM_017003212.2:c.430del XM_017003212.2:c.430dup
RABL2A transcript variant X11 XM_017003212.1:c.425_430= XM_017003212.1:c.430del XM_017003212.1:c.430dup
RABL2A transcript variant X8 XM_017003211.2:c.428_433= XM_017003211.2:c.433del XM_017003211.2:c.433dup
RABL2A transcript variant X10 XM_017003211.1:c.428_433= XM_017003211.1:c.433del XM_017003211.1:c.433dup
RABL2A transcript variant 13 NM_001354412.2:c.428_433= NM_001354412.2:c.433del NM_001354412.2:c.433dup
RABL2A transcript variant 13 NM_001354412.1:c.428_433= NM_001354412.1:c.433del NM_001354412.1:c.433dup
RABL2A transcript variant 16 NM_001354416.2:c.425_430= NM_001354416.2:c.430del NM_001354416.2:c.430dup
RABL2A transcript variant 16 NM_001354416.1:c.425_430= NM_001354416.1:c.430del NM_001354416.1:c.430dup
RABL2A transcript variant 3 NM_001306158.2:c.428_433= NM_001306158.2:c.433del NM_001306158.2:c.433dup
RABL2A transcript variant 3 NM_001306158.1:c.428_433= NM_001306158.1:c.433del NM_001306158.1:c.433dup
RABL2A transcript variant 24 NM_001354426.2:c.173_178= NM_001354426.2:c.178del NM_001354426.2:c.178dup
RABL2A transcript variant 24 NM_001354426.1:c.173_178= NM_001354426.1:c.178del NM_001354426.1:c.178dup
RABL2A transcript variant 21 NM_001354423.2:c.236_241= NM_001354423.2:c.241del NM_001354423.2:c.241dup
RABL2A transcript variant 21 NM_001354423.1:c.236_241= NM_001354423.1:c.241del NM_001354423.1:c.241dup
RABL2A transcript variant X4 XM_017003205.2:c.428_433= XM_017003205.2:c.433del XM_017003205.2:c.433dup
RABL2A transcript variant X3 XM_017003205.1:c.428_433= XM_017003205.1:c.433del XM_017003205.1:c.433dup
RABL2A transcript variant 25 NM_001354427.2:c.152_157= NM_001354427.2:c.157del NM_001354427.2:c.157dup
RABL2A transcript variant 25 NM_001354427.1:c.152_157= NM_001354427.1:c.157del NM_001354427.1:c.157dup
RABL2A transcript variant 26 NM_001354428.2:c.149_154= NM_001354428.2:c.154del NM_001354428.2:c.154dup
RABL2A transcript variant 26 NM_001354428.1:c.149_154= NM_001354428.1:c.154del NM_001354428.1:c.154dup
RABL2A transcript variant X13 XM_017003215.2:c.428_433= XM_017003215.2:c.433del XM_017003215.2:c.433dup
RABL2A transcript variant X14 XM_017003215.1:c.428_433= XM_017003215.1:c.433del XM_017003215.1:c.433dup
RABL2A transcript variant 29 NR_148881.2:n.508_513= NR_148881.2:n.513del NR_148881.2:n.513dup
RABL2A transcript variant 29 NR_148881.1:n.545_550= NR_148881.1:n.550del NR_148881.1:n.550dup
RABL2A transcript variant 30 NR_148882.2:n.504_509= NR_148882.2:n.509del NR_148882.2:n.509dup
RABL2A transcript variant 30 NR_148882.1:n.541_546= NR_148882.1:n.546del NR_148882.1:n.546dup
RABL2A transcript variant 27 NR_148879.2:n.501_506= NR_148879.2:n.506del NR_148879.2:n.506dup
RABL2A transcript variant 27 NR_148879.1:n.538_543= NR_148879.1:n.543del NR_148879.1:n.543dup
RABL2A transcript variant 19 NM_001354419.2:c.236_241= NM_001354419.2:c.241del NM_001354419.2:c.241dup
RABL2A transcript variant 19 NM_001354419.1:c.236_241= NM_001354419.1:c.241del NM_001354419.1:c.241dup
RABL2A transcript variant 18 NM_001354418.2:c.236_241= NM_001354418.2:c.241del NM_001354418.2:c.241dup
RABL2A transcript variant 18 NM_001354418.1:c.236_241= NM_001354418.1:c.241del NM_001354418.1:c.241dup
RABL2A transcript variant 6 NM_001306161.2:c.236_241= NM_001306161.2:c.241del NM_001306161.2:c.241dup
RABL2A transcript variant 6 NM_001306161.1:c.236_241= NM_001306161.1:c.241del NM_001306161.1:c.241dup
RABL2A transcript variant 28 NR_148880.2:n.424_429= NR_148880.2:n.429del NR_148880.2:n.429dup
RABL2A transcript variant 28 NR_148880.1:n.461_466= NR_148880.1:n.466del NR_148880.1:n.466dup
RABL2A transcript variant 20 NM_001354421.2:c.236_241= NM_001354421.2:c.241del NM_001354421.2:c.241dup
RABL2A transcript variant 20 NM_001354421.1:c.236_241= NM_001354421.1:c.241del NM_001354421.1:c.241dup
RABL2A transcript variant 22 NM_001354424.2:c.233_238= NM_001354424.2:c.238del NM_001354424.2:c.238dup
RABL2A transcript variant 22 NM_001354424.1:c.233_238= NM_001354424.1:c.238del NM_001354424.1:c.238dup
RABL2A transcript variant 4 NM_001306159.2:c.428_433= NM_001306159.2:c.433del NM_001306159.2:c.433dup
RABL2A transcript variant 4 NM_001306159.1:c.428_433= NM_001306159.1:c.433del NM_001306159.1:c.433dup
RABL2A transcript variant 17 NM_001354417.2:c.428_433= NM_001354417.2:c.433del NM_001354417.2:c.433dup
RABL2A transcript variant 17 NM_001354417.1:c.428_433= NM_001354417.1:c.433del NM_001354417.1:c.433dup
RABL2A transcript variant X27 XM_047443058.1:c.188_193= XM_047443058.1:c.193del XM_047443058.1:c.193dup
RABL2A transcript variant X1 XM_047443039.1:c.428_433= XM_047443039.1:c.433del XM_047443039.1:c.433dup
RABL2A transcript variant X12 XM_047443045.1:c.428_433= XM_047443045.1:c.433del XM_047443045.1:c.433dup
RABL2A transcript variant X22 XM_047443053.1:c.236_241= XM_047443053.1:c.241del XM_047443053.1:c.241dup
RABL2A transcript variant X3 XM_047443041.1:c.428_433= XM_047443041.1:c.433del XM_047443041.1:c.433dup
RABL2A transcript variant X10 XM_047443044.1:c.428_433= XM_047443044.1:c.433del XM_047443044.1:c.433dup
RABL2A transcript variant X18 XM_047443049.1:c.425_430= XM_047443049.1:c.430del XM_047443049.1:c.430dup
RABL2A transcript variant X28 XM_047443059.1:c.173_178= XM_047443059.1:c.178del XM_047443059.1:c.178dup
RABL2A transcript variant X29 XM_047443060.1:c.173_178= XM_047443060.1:c.178del XM_047443060.1:c.178dup
RABL2A transcript variant X30 XM_047443061.1:c.152_157= XM_047443061.1:c.157del XM_047443061.1:c.157dup
RABL2A transcript variant X23 XM_047443054.1:c.236_241= XM_047443054.1:c.241del XM_047443054.1:c.241dup
RABL2A transcript variant X25 XM_047443056.1:c.236_241= XM_047443056.1:c.241del XM_047443056.1:c.241dup
RABL2A transcript variant X19 XM_047443050.1:c.425_430= XM_047443050.1:c.430del XM_047443050.1:c.430dup
RABL2A transcript variant X21 XM_047443052.1:c.236_241= XM_047443052.1:c.241del XM_047443052.1:c.241dup
RABL2A transcript variant X26 XM_047443057.1:c.233_238= XM_047443057.1:c.238del XM_047443057.1:c.238dup
RABL2A transcript variant X24 XM_047443055.1:c.236_241= XM_047443055.1:c.241del XM_047443055.1:c.241dup
RABL2A transcript variant X15 XM_047443047.1:c.428_433= XM_047443047.1:c.433del XM_047443047.1:c.433dup
RABL2A transcript variant X7 XM_047443043.1:c.425_430= XM_047443043.1:c.430del XM_047443043.1:c.430dup
RABL2A transcript variant X16 XM_047443048.1:c.428_433= XM_047443048.1:c.433del XM_047443048.1:c.433dup
RABL2A transcript variant X20 XM_047443051.1:c.425_430= XM_047443051.1:c.430del XM_047443051.1:c.430dup
RABL2A transcript variant X32 XM_047443063.1:c.*337_*342= XM_047443063.1:c.*342del XM_047443063.1:c.*342dup
RABL2A transcript variant X31 XM_047443062.1:c.*337_*342= XM_047443062.1:c.*342del XM_047443062.1:c.*342dup
rab-like protein 2A isoform 1 NP_009013.1:p.Gln142_Ser144= NP_009013.1:p.Ser144fs NP_009013.1:p.Ser144fs
rab-like protein 2A isoform 1 NP_038198.1:p.Gln142_Ser144= NP_038198.1:p.Ser144fs NP_038198.1:p.Ser144fs
rab-like protein 2A isoform 3 NP_001293089.1:p.Gln142_Ser144= NP_001293089.1:p.Ser144fs NP_001293089.1:p.Ser144fs
rab-like protein 2A isoform X2 XP_024308341.1:p.Gln142_Ser144= XP_024308341.1:p.Ser144fs XP_024308341.1:p.Ser144fs
rab-like protein 2A isoform X6 XP_016858709.1:p.Gln142_Ser144= XP_016858709.1:p.Ser144fs XP_016858709.1:p.Ser144fs
rab-like protein 2A isoform 5 NP_001341338.1:p.Gln143_Ser145= NP_001341338.1:p.Ser145fs NP_001341338.1:p.Ser145fs
rab-like protein 2A isoform 5 NP_001341334.1:p.Gln143_Ser145= NP_001341334.1:p.Ser145fs NP_001341334.1:p.Ser145fs
rab-like protein 2A isoform 2 NP_001341343.1:p.Gln143_Ser145= NP_001341343.1:p.Ser145fs NP_001341343.1:p.Ser145fs
rab-like protein 2A isoform X5 XP_024308343.1:p.Gln143_Ser145= XP_024308343.1:p.Ser145fs XP_024308343.1:p.Ser145fs
rab-like protein 2A isoform 5 NP_001341337.1:p.Gln143_Ser145= NP_001341337.1:p.Ser145fs NP_001341337.1:p.Ser145fs
rab-like protein 2A isoform 2 NP_001341342.1:p.Gln143_Ser145= NP_001341342.1:p.Ser145fs NP_001341342.1:p.Ser145fs
rab-like protein 2A isoform X1 XP_016858696.1:p.Gln143_Ser145= XP_016858696.1:p.Ser145fs XP_016858696.1:p.Ser145fs
rab-like protein 2A isoform 9 NP_001341354.1:p.Gln58_Ser60= NP_001341354.1:p.Ser60fs NP_001341354.1:p.Ser60fs
rab-like protein 2A isoform X1 XP_011508811.1:p.Gln143_Ser145= XP_011508811.1:p.Ser145fs XP_011508811.1:p.Ser145fs
rab-like protein 2A isoform 5 NP_001341335.1:p.Gln143_Ser145= NP_001341335.1:p.Ser145fs NP_001341335.1:p.Ser145fs
rab-like protein 2A isoform 3 NP_001341339.1:p.Gln142_Ser144= NP_001341339.1:p.Ser144fs NP_001341339.1:p.Ser144fs
rab-like protein 2A isoform 5 NP_001341336.1:p.Gln143_Ser145= NP_001341336.1:p.Ser145fs NP_001341336.1:p.Ser145fs
rab-like protein 2A isoform X3 XP_016858699.1:p.Gln143_Ser145= XP_016858699.1:p.Ser145fs XP_016858699.1:p.Ser145fs
rab-like protein 2A isoform X4 XP_016858701.1:p.Gln142_Ser144= XP_016858701.1:p.Ser144fs XP_016858701.1:p.Ser144fs
rab-like protein 2A isoform X3 XP_016858700.1:p.Gln143_Ser145= XP_016858700.1:p.Ser145fs XP_016858700.1:p.Ser145fs
rab-like protein 2A isoform 2 NP_001341341.1:p.Gln143_Ser145= NP_001341341.1:p.Ser145fs NP_001341341.1:p.Ser145fs
rab-like protein 2A isoform 1 NP_001341345.1:p.Gln142_Ser144= NP_001341345.1:p.Ser144fs NP_001341345.1:p.Ser144fs
rab-like protein 2A isoform 2 NP_001293087.1:p.Gln143_Ser145= NP_001293087.1:p.Ser145fs NP_001293087.1:p.Ser145fs
rab-like protein 2A isoform 10 NP_001341355.1:p.Gln58_Ser60= NP_001341355.1:p.Ser60fs NP_001341355.1:p.Ser60fs
rab-like protein 2A isoform 4 NP_001341352.1:p.Gln79_Ser81= NP_001341352.1:p.Ser81fs NP_001341352.1:p.Ser81fs
rab-like protein 2A isoform X1 XP_016858694.1:p.Gln143_Ser145= XP_016858694.1:p.Ser145fs XP_016858694.1:p.Ser145fs
rab-like protein 2A isoform 11 NP_001341356.1:p.Gln51_Ser53= NP_001341356.1:p.Ser53fs NP_001341356.1:p.Ser53fs
rab-like protein 2A isoform 12 NP_001341357.1:p.Gln50_Ser52= NP_001341357.1:p.Ser52fs NP_001341357.1:p.Ser52fs
rab-like protein 2A isoform X5 XP_016858704.1:p.Gln143_Ser145= XP_016858704.1:p.Ser145fs XP_016858704.1:p.Ser145fs
rab-like protein 2A isoform 7 NP_001341348.1:p.Gln79_Ser81= NP_001341348.1:p.Ser81fs NP_001341348.1:p.Ser81fs
rab-like protein 2A isoform 7 NP_001341347.1:p.Gln79_Ser81= NP_001341347.1:p.Ser81fs NP_001341347.1:p.Ser81fs
rab-like protein 2A isoform 4 NP_001293090.1:p.Gln79_Ser81= NP_001293090.1:p.Ser81fs NP_001293090.1:p.Ser81fs
rab-like protein 2A isoform 4 NP_001341350.1:p.Gln79_Ser81= NP_001341350.1:p.Ser81fs NP_001341350.1:p.Ser81fs
rab-like protein 2A isoform 8 NP_001341353.1:p.Gln78_Ser80= NP_001341353.1:p.Ser80fs NP_001341353.1:p.Ser80fs
rab-like protein 2A isoform 2 NP_001293088.1:p.Gln143_Ser145= NP_001293088.1:p.Ser145fs NP_001293088.1:p.Ser145fs
rab-like protein 2A isoform 6 NP_001341346.1:p.Gln143_Ser145= NP_001341346.1:p.Ser145fs NP_001341346.1:p.Ser145fs
rab-like protein 2A isoform X10 XP_047299014.1:p.Gln63_Ser65= XP_047299014.1:p.Ser65fs XP_047299014.1:p.Ser65fs
rab-like protein 2A isoform X1 XP_047298995.1:p.Gln143_Ser145= XP_047298995.1:p.Ser145fs XP_047298995.1:p.Ser145fs
rab-like protein 2A isoform X5 XP_047299001.1:p.Gln143_Ser145= XP_047299001.1:p.Ser145fs XP_047299001.1:p.Ser145fs
rab-like protein 2A isoform X8 XP_047299009.1:p.Gln79_Ser81= XP_047299009.1:p.Ser81fs XP_047299009.1:p.Ser81fs
rab-like protein 2A isoform X1 XP_047298997.1:p.Gln143_Ser145= XP_047298997.1:p.Ser145fs XP_047298997.1:p.Ser145fs
rab-like protein 2A isoform X3 XP_047299000.1:p.Gln143_Ser145= XP_047299000.1:p.Ser145fs XP_047299000.1:p.Ser145fs
rab-like protein 2A isoform X6 XP_047299005.1:p.Gln142_Ser144= XP_047299005.1:p.Ser144fs XP_047299005.1:p.Ser144fs
rab-like protein 2A isoform X11 XP_047299015.1:p.Gln58_Ser60= XP_047299015.1:p.Ser60fs XP_047299015.1:p.Ser60fs
rab-like protein 2A isoform X11 XP_047299016.1:p.Gln58_Ser60= XP_047299016.1:p.Ser60fs XP_047299016.1:p.Ser60fs
rab-like protein 2A isoform X12 XP_047299017.1:p.Gln51_Ser53= XP_047299017.1:p.Ser53fs XP_047299017.1:p.Ser53fs
rab-like protein 2A isoform X8 XP_047299010.1:p.Gln79_Ser81= XP_047299010.1:p.Ser81fs XP_047299010.1:p.Ser81fs
rab-like protein 2A isoform X8 XP_047299012.1:p.Gln79_Ser81= XP_047299012.1:p.Ser81fs XP_047299012.1:p.Ser81fs
rab-like protein 2A isoform X6 XP_047299006.1:p.Gln142_Ser144= XP_047299006.1:p.Ser144fs XP_047299006.1:p.Ser144fs
rab-like protein 2A isoform X7 XP_047299008.1:p.Gln79_Ser81= XP_047299008.1:p.Ser81fs XP_047299008.1:p.Ser81fs
rab-like protein 2A isoform X9 XP_047299013.1:p.Gln78_Ser80= XP_047299013.1:p.Ser80fs XP_047299013.1:p.Ser80fs
rab-like protein 2A isoform X8 XP_047299011.1:p.Gln79_Ser81= XP_047299011.1:p.Ser81fs XP_047299011.1:p.Ser81fs
rab-like protein 2A isoform X5 XP_047299003.1:p.Gln143_Ser145= XP_047299003.1:p.Ser145fs XP_047299003.1:p.Ser145fs
rab-like protein 2A isoform X2 XP_047298999.1:p.Gln142_Ser144= XP_047298999.1:p.Ser144fs XP_047298999.1:p.Ser144fs
rab-like protein 2A isoform X5 XP_047299004.1:p.Gln143_Ser145= XP_047299004.1:p.Ser145fs XP_047299004.1:p.Ser145fs
rab-like protein 2A isoform X6 XP_047299007.1:p.Gln142_Ser144= XP_047299007.1:p.Ser144fs XP_047299007.1:p.Ser144fs
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

3 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1711686162 Apr 01, 2015 (144)
2 GNOMAD ss2732932801 Nov 08, 2017 (151)
3 GNOMAD ss2746762722 Nov 08, 2017 (151)
4 ExAC NC_000002.11 - 114398948 Oct 11, 2018 (152)
5 ALFA NC_000002.12 - 113641371 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2732932801, ss2746762722 NC_000002.11:114398947:A: NC_000002.12:113641370:AAAAAA:AAAAA (self)
12857669295 NC_000002.12:113641370:AAAAAA:AAAAA NC_000002.12:113641370:AAAAAA:AAAAA (self)
6364530, ss1711686162 NC_000002.11:114398947::A NC_000002.12:113641370:AAAAAA:AAAA…

NC_000002.12:113641370:AAAAAA:AAAAAAA

 (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs749992462

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d