Name: rs55703731
Published: September 21, 2022
License: Open Access

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.

rs55703731

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32400746-32400763 (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: del(A)₅ / del(A)₄ / delAA / delA /…
del(A)₅ / del(A)₄ / delAA / delA / dupA / dupAA / dupAAA / dup(A)₈ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.00174 (45/25896, 14KJPN)
dupA=0.00125 (19/15162, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TSBP1-AS1 : Intron Variant
BTNL2 : Intron 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	15162	AAAAAAAAAAAAAAAAAA=0.99815	AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00125, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00059, AAAAAAAAAAAAAAAAAAAA=0.00000	0.998392	0.000536	0.001072	32
European	Sub	11498	AAAAAAAAAAAAAAAAAA=0.99756	AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00165, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00078, AAAAAAAAAAAAAAAAAAAA=0.00000	0.99787	0.00071	0.00142	32
African	Sub	2280	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	80	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	2200	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	108	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	84	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	134	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	600	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	94	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	448	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
14KJPN	JAPANESE	Study-wide	25896	(A)₁₈=0.99826	delA=0.00174
Allele Frequency Aggregator	Total	Global	15162	(A)₁₈=0.99815	del(A)₄=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00125, dupAA=0.00000, dup(A)₁₁=0.00059
Allele Frequency Aggregator	European	Sub	11498	(A)₁₈=0.99756	del(A)₄=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00165, dupAA=0.00000, dup(A)₁₁=0.00078
Allele Frequency Aggregator	African	Sub	2280	(A)₁₈=1.0000	del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)₁₁=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	600	(A)₁₈=1.000	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₁₁=0.000
Allele Frequency Aggregator	Other	Sub	448	(A)₁₈=1.000	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₁₁=0.000
Allele Frequency Aggregator	Latin American 1	Sub	134	(A)₁₈=1.000	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₁₁=0.000
Allele Frequency Aggregator	Asian	Sub	108	(A)₁₈=1.000	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)₁₁=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(A)₁₈=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₁₁=0.00

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 6	NC_000006.12:g.32400759_32400763del
GRCh38.p14 chr 6	NC_000006.12:g.32400760_32400763del
GRCh38.p14 chr 6	NC_000006.12:g.32400762_32400763del
GRCh38.p14 chr 6	NC_000006.12:g.32400763del
GRCh38.p14 chr 6	NC_000006.12:g.32400763dup
GRCh38.p14 chr 6	NC_000006.12:g.32400762_32400763dup
GRCh38.p14 chr 6	NC_000006.12:g.32400761_32400763dup
GRCh38.p14 chr 6	NC_000006.12:g.32400756_32400763dup
GRCh38.p14 chr 6	NC_000006.12:g.32400754_32400763dup
GRCh38.p14 chr 6	NC_000006.12:g.32400753_32400763dup
GRCh38.p14 chr 6	NC_000006.12:g.32400752_32400763dup
GRCh38.p14 chr 6	NC_000006.12:g.32400751_32400763dup
GRCh37.p13 chr 6	NC_000006.11:g.32368536_32368540del
GRCh37.p13 chr 6	NC_000006.11:g.32368537_32368540del
GRCh37.p13 chr 6	NC_000006.11:g.32368539_32368540del
GRCh37.p13 chr 6	NC_000006.11:g.32368540del
GRCh37.p13 chr 6	NC_000006.11:g.32368540dup
GRCh37.p13 chr 6	NC_000006.11:g.32368539_32368540dup
GRCh37.p13 chr 6	NC_000006.11:g.32368538_32368540dup
GRCh37.p13 chr 6	NC_000006.11:g.32368533_32368540dup
GRCh37.p13 chr 6	NC_000006.11:g.32368531_32368540dup
GRCh37.p13 chr 6	NC_000006.11:g.32368530_32368540dup
GRCh37.p13 chr 6	NC_000006.11:g.32368529_32368540dup
GRCh37.p13 chr 6	NC_000006.11:g.32368528_32368540dup
BTNL2 RefSeqGene	NG_054759.1:g.13130_13134del
BTNL2 RefSeqGene	NG_054759.1:g.13131_13134del
BTNL2 RefSeqGene	NG_054759.1:g.13133_13134del
BTNL2 RefSeqGene	NG_054759.1:g.13134del
BTNL2 RefSeqGene	NG_054759.1:g.13134dup
BTNL2 RefSeqGene	NG_054759.1:g.13133_13134dup
BTNL2 RefSeqGene	NG_054759.1:g.13132_13134dup
BTNL2 RefSeqGene	NG_054759.1:g.13127_13134dup
BTNL2 RefSeqGene	NG_054759.1:g.13125_13134dup
BTNL2 RefSeqGene	NG_054759.1:g.13124_13134dup
BTNL2 RefSeqGene	NG_054759.1:g.13123_13134dup
BTNL2 RefSeqGene	NG_054759.1:g.13122_13134dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838851_3838855del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838852_3838855del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838854_3838855del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838855del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838854_3838855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838853_3838855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838848_3838855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838846_3838855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838845_3838855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838844_3838855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838843_3838855dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838957_3838961del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838958_3838961del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838960_3838961del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838961del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838961dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838960_3838961dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838959_3838961dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838954_3838961dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838952_3838961dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838951_3838961dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838950_3838961dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838949_3838961dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732990_3732994del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732991_3732994del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732993_3732994del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732994del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732993_3732994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732992_3732994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732987_3732994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732985_3732994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732984_3732994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732983_3732994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732982_3732994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682906_3682910del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682907_3682910del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682909_3682910del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682910del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682910dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682909_3682910dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682908_3682910dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682903_3682910dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682901_3682910dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682900_3682910dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682899_3682910dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682898_3682910dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623798_3623802del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623799_3623802del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623801_3623802del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623802del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623802dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623801_3623802dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623800_3623802dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623795_3623802dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623793_3623802dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623792_3623802dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623791_3623802dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623790_3623802dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629394_3629398del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629395_3629398del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629397_3629398del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629398del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629398dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629397_3629398dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629396_3629398dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629391_3629398dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629389_3629398dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629388_3629398dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629387_3629398dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629386_3629398dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705762_3705766del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705763_3705766del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705765_3705766del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705766del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705766dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705765_3705766dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705764_3705766dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705759_3705766dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705757_3705766dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705756_3705766dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705755_3705766dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705754_3705766dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711382_3711386del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711383_3711386del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711385_3711386del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711386del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711386dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711385_3711386dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711384_3711386dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711379_3711386dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711377_3711386dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711376_3711386dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711375_3711386dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711374_3711386dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716692_3716696del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716693_3716696del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716695_3716696del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716696del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716696dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716695_3716696dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716694_3716696dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716689_3716696dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716687_3716696dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716686_3716696dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716685_3716696dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716684_3716696dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715990_3715994del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715991_3715994del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715993_3715994del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715994del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715993_3715994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715992_3715994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715987_3715994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715985_3715994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715984_3715994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715983_3715994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715982_3715994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742520_3742524del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742521_3742524del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742523_3742524del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742524del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742524dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742523_3742524dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742522_3742524dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742517_3742524dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742515_3742524dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742514_3742524dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742513_3742524dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742512_3742524dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748105_3748109del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748106_3748109del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748108_3748109del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748109del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748109dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748108_3748109dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748107_3748109dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748102_3748109dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748100_3748109dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748099_3748109dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748098_3748109dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748097_3748109dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641851_3641855del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641852_3641855del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641854_3641855del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641855del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641854_3641855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641853_3641855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641848_3641855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641846_3641855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641845_3641855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641844_3641855dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641843_3641855dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647436_3647440del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647437_3647440del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647439_3647440del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647440del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647440dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647439_3647440dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647438_3647440dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647433_3647440dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647431_3647440dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647430_3647440dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647429_3647440dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647428_3647440dup

Gene: BTNL2, butyrophilin like 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BTNL2 transcript	NM_001304561.2:c.730+1035… NM_001304561.2:c.730+1035_730+1039del	N/A	Intron Variant

Gene: TSBP1-AS1, TSBP1 and BTNL2 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TSBP1-AS1 transcript variant 2	NR_136245.1:n.	N/A	Intron Variant
TSBP1-AS1 transcript variant 1	NR_136244.1:n.	N/A	Genic Downstream Transcript Variant
TSBP1-AS1 transcript variant 3	NR_136246.1:n.	N/A	Genic Downstream Transcript Variant

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

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)₁₈=	del(A)₅	del(A)₄	delAA	delA	dupA	dupAA	dupAAA	dup(A)₈	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₃
GRCh38.p14 chr 6	NC_000006.12:g.32400746_32400763=	NC_000006.12:g.32400759_32400763del	NC_000006.12:g.32400760_32400763del	NC_000006.12:g.32400762_32400763del	NC_000006.12:g.32400763del	NC_000006.12:g.32400763dup	NC_000006.12:g.32400762_32400763dup	NC_000006.12:g.32400761_32400763dup	NC_000006.12:g.32400756_32400763dup	NC_000006.12:g.32400754_32400763dup	NC_000006.12:g.32400753_32400763dup	NC_000006.12:g.32400752_32400763dup	NC_000006.12:g.32400751_32400763dup
GRCh37.p13 chr 6	NC_000006.11:g.32368523_32368540=	NC_000006.11:g.32368536_32368540del	NC_000006.11:g.32368537_32368540del	NC_000006.11:g.32368539_32368540del	NC_000006.11:g.32368540del	NC_000006.11:g.32368540dup	NC_000006.11:g.32368539_32368540dup	NC_000006.11:g.32368538_32368540dup	NC_000006.11:g.32368533_32368540dup	NC_000006.11:g.32368531_32368540dup	NC_000006.11:g.32368530_32368540dup	NC_000006.11:g.32368529_32368540dup	NC_000006.11:g.32368528_32368540dup
BTNL2 RefSeqGene	NG_054759.1:g.13117_13134=	NG_054759.1:g.13130_13134del	NG_054759.1:g.13131_13134del	NG_054759.1:g.13133_13134del	NG_054759.1:g.13134del	NG_054759.1:g.13134dup	NG_054759.1:g.13133_13134dup	NG_054759.1:g.13132_13134dup	NG_054759.1:g.13127_13134dup	NG_054759.1:g.13125_13134dup	NG_054759.1:g.13124_13134dup	NG_054759.1:g.13123_13134dup	NG_054759.1:g.13122_13134dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3838838_3838855=	NT_113891.3:g.3838851_3838855del	NT_113891.3:g.3838852_3838855del	NT_113891.3:g.3838854_3838855del	NT_113891.3:g.3838855del	NT_113891.3:g.3838855dup	NT_113891.3:g.3838854_3838855dup	NT_113891.3:g.3838853_3838855dup	NT_113891.3:g.3838848_3838855dup	NT_113891.3:g.3838846_3838855dup	NT_113891.3:g.3838845_3838855dup	NT_113891.3:g.3838844_3838855dup	NT_113891.3:g.3838843_3838855dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3838944_3838961=	NT_113891.2:g.3838957_3838961del	NT_113891.2:g.3838958_3838961del	NT_113891.2:g.3838960_3838961del	NT_113891.2:g.3838961del	NT_113891.2:g.3838961dup	NT_113891.2:g.3838960_3838961dup	NT_113891.2:g.3838959_3838961dup	NT_113891.2:g.3838954_3838961dup	NT_113891.2:g.3838952_3838961dup	NT_113891.2:g.3838951_3838961dup	NT_113891.2:g.3838950_3838961dup	NT_113891.2:g.3838949_3838961dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3732977_3732994=	NT_167244.2:g.3732990_3732994del	NT_167244.2:g.3732991_3732994del	NT_167244.2:g.3732993_3732994del	NT_167244.2:g.3732994del	NT_167244.2:g.3732994dup	NT_167244.2:g.3732993_3732994dup	NT_167244.2:g.3732992_3732994dup	NT_167244.2:g.3732987_3732994dup	NT_167244.2:g.3732985_3732994dup	NT_167244.2:g.3732984_3732994dup	NT_167244.2:g.3732983_3732994dup	NT_167244.2:g.3732982_3732994dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3682893_3682910=	NT_167244.1:g.3682906_3682910del	NT_167244.1:g.3682907_3682910del	NT_167244.1:g.3682909_3682910del	NT_167244.1:g.3682910del	NT_167244.1:g.3682910dup	NT_167244.1:g.3682909_3682910dup	NT_167244.1:g.3682908_3682910dup	NT_167244.1:g.3682903_3682910dup	NT_167244.1:g.3682901_3682910dup	NT_167244.1:g.3682900_3682910dup	NT_167244.1:g.3682899_3682910dup	NT_167244.1:g.3682898_3682910dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3623785_3623802=	NT_167248.2:g.3623798_3623802del	NT_167248.2:g.3623799_3623802del	NT_167248.2:g.3623801_3623802del	NT_167248.2:g.3623802del	NT_167248.2:g.3623802dup	NT_167248.2:g.3623801_3623802dup	NT_167248.2:g.3623800_3623802dup	NT_167248.2:g.3623795_3623802dup	NT_167248.2:g.3623793_3623802dup	NT_167248.2:g.3623792_3623802dup	NT_167248.2:g.3623791_3623802dup	NT_167248.2:g.3623790_3623802dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3629381_3629398=	NT_167248.1:g.3629394_3629398del	NT_167248.1:g.3629395_3629398del	NT_167248.1:g.3629397_3629398del	NT_167248.1:g.3629398del	NT_167248.1:g.3629398dup	NT_167248.1:g.3629397_3629398dup	NT_167248.1:g.3629396_3629398dup	NT_167248.1:g.3629391_3629398dup	NT_167248.1:g.3629389_3629398dup	NT_167248.1:g.3629388_3629398dup	NT_167248.1:g.3629387_3629398dup	NT_167248.1:g.3629386_3629398dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3705744_3705766=	NT_167246.2:g.3705762_3705766del	NT_167246.2:g.3705763_3705766del	NT_167246.2:g.3705765_3705766del	NT_167246.2:g.3705766del	NT_167246.2:g.3705766dup	NT_167246.2:g.3705765_3705766dup	NT_167246.2:g.3705764_3705766dup	NT_167246.2:g.3705759_3705766dup	NT_167246.2:g.3705757_3705766dup	NT_167246.2:g.3705756_3705766dup	NT_167246.2:g.3705755_3705766dup	NT_167246.2:g.3705754_3705766dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3711364_3711386=	NT_167246.1:g.3711382_3711386del	NT_167246.1:g.3711383_3711386del	NT_167246.1:g.3711385_3711386del	NT_167246.1:g.3711386del	NT_167246.1:g.3711386dup	NT_167246.1:g.3711385_3711386dup	NT_167246.1:g.3711384_3711386dup	NT_167246.1:g.3711379_3711386dup	NT_167246.1:g.3711377_3711386dup	NT_167246.1:g.3711376_3711386dup	NT_167246.1:g.3711375_3711386dup	NT_167246.1:g.3711374_3711386dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3716674_3716696=	NT_167249.2:g.3716692_3716696del	NT_167249.2:g.3716693_3716696del	NT_167249.2:g.3716695_3716696del	NT_167249.2:g.3716696del	NT_167249.2:g.3716696dup	NT_167249.2:g.3716695_3716696dup	NT_167249.2:g.3716694_3716696dup	NT_167249.2:g.3716689_3716696dup	NT_167249.2:g.3716687_3716696dup	NT_167249.2:g.3716686_3716696dup	NT_167249.2:g.3716685_3716696dup	NT_167249.2:g.3716684_3716696dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3715972_3715994=	NT_167249.1:g.3715990_3715994del	NT_167249.1:g.3715991_3715994del	NT_167249.1:g.3715993_3715994del	NT_167249.1:g.3715994del	NT_167249.1:g.3715994dup	NT_167249.1:g.3715993_3715994dup	NT_167249.1:g.3715992_3715994dup	NT_167249.1:g.3715987_3715994dup	NT_167249.1:g.3715985_3715994dup	NT_167249.1:g.3715984_3715994dup	NT_167249.1:g.3715983_3715994dup	NT_167249.1:g.3715982_3715994dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3742502_3742524=	NT_167247.2:g.3742520_3742524del	NT_167247.2:g.3742521_3742524del	NT_167247.2:g.3742523_3742524del	NT_167247.2:g.3742524del	NT_167247.2:g.3742524dup	NT_167247.2:g.3742523_3742524dup	NT_167247.2:g.3742522_3742524dup	NT_167247.2:g.3742517_3742524dup	NT_167247.2:g.3742515_3742524dup	NT_167247.2:g.3742514_3742524dup	NT_167247.2:g.3742513_3742524dup	NT_167247.2:g.3742512_3742524dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3748087_3748109=	NT_167247.1:g.3748105_3748109del	NT_167247.1:g.3748106_3748109del	NT_167247.1:g.3748108_3748109del	NT_167247.1:g.3748109del	NT_167247.1:g.3748109dup	NT_167247.1:g.3748108_3748109dup	NT_167247.1:g.3748107_3748109dup	NT_167247.1:g.3748102_3748109dup	NT_167247.1:g.3748100_3748109dup	NT_167247.1:g.3748099_3748109dup	NT_167247.1:g.3748098_3748109dup	NT_167247.1:g.3748097_3748109dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3641837_3641855=	NT_167245.2:g.3641851_3641855del	NT_167245.2:g.3641852_3641855del	NT_167245.2:g.3641854_3641855del	NT_167245.2:g.3641855del	NT_167245.2:g.3641855dup	NT_167245.2:g.3641854_3641855dup	NT_167245.2:g.3641853_3641855dup	NT_167245.2:g.3641848_3641855dup	NT_167245.2:g.3641846_3641855dup	NT_167245.2:g.3641845_3641855dup	NT_167245.2:g.3641844_3641855dup	NT_167245.2:g.3641843_3641855dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3647422_3647440=	NT_167245.1:g.3647436_3647440del	NT_167245.1:g.3647437_3647440del	NT_167245.1:g.3647439_3647440del	NT_167245.1:g.3647440del	NT_167245.1:g.3647440dup	NT_167245.1:g.3647439_3647440dup	NT_167245.1:g.3647438_3647440dup	NT_167245.1:g.3647433_3647440dup	NT_167245.1:g.3647431_3647440dup	NT_167245.1:g.3647430_3647440dup	NT_167245.1:g.3647429_3647440dup	NT_167245.1:g.3647428_3647440dup
BTNL2 transcript	NM_001304561.2:c.730+1039=	NM_001304561.2:c.730+1035_730+1039del	NM_001304561.2:c.730+1036_730+1039del	NM_001304561.2:c.730+1038_730+1039del	NM_001304561.2:c.730+1039del	NM_001304561.2:c.730+1039dup	NM_001304561.2:c.730+1038_730+1039dup	NM_001304561.2:c.730+1037_730+1039dup	NM_001304561.2:c.730+1032_730+1039dup	NM_001304561.2:c.730+1030_730+1039dup	NM_001304561.2:c.730+1029_730+1039dup	NM_001304561.2:c.730+1028_730+1039dup	NM_001304561.2:c.730+1027_730+1039dup
BTNL2 transcript	NM_019602.1:c.730+1039=	NM_019602.1:c.730+1035_730+1039del	NM_019602.1:c.730+1036_730+1039del	NM_019602.1:c.730+1038_730+1039del	NM_019602.1:c.730+1039del	NM_019602.1:c.730+1039dup	NM_019602.1:c.730+1038_730+1039dup	NM_019602.1:c.730+1037_730+1039dup	NM_019602.1:c.730+1032_730+1039dup	NM_019602.1:c.730+1030_730+1039dup	NM_019602.1:c.730+1029_730+1039dup	NM_019602.1:c.730+1028_730+1039dup	NM_019602.1:c.730+1027_730+1039dup

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#.

20 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss71699620	Dec 06, 2007 (129)
2	SWEGEN	ss2998807613	Nov 08, 2017 (151)
3	PACBIO	ss3785427541	Jul 13, 2019 (153)
4	EVA	ss3829836674	Apr 26, 2020 (154)
5	GNOMAD	ss4139456953	Apr 26, 2021 (155)
6	GNOMAD	ss4139456954	Apr 26, 2021 (155)
7	GNOMAD	ss4139456955	Apr 26, 2021 (155)
8	GNOMAD	ss4139456956	Apr 26, 2021 (155)
9	GNOMAD	ss4139456957	Apr 26, 2021 (155)
10	GNOMAD	ss4139456958	Apr 26, 2021 (155)
11	GNOMAD	ss4139456959	Apr 26, 2021 (155)
12	GNOMAD	ss4139456981	Apr 26, 2021 (155)
13	GNOMAD	ss4139456982	Apr 26, 2021 (155)
14	GNOMAD	ss4139456983	Apr 26, 2021 (155)
15	GNOMAD	ss4139456984	Apr 26, 2021 (155)
16	1000G_HIGH_COVERAGE	ss5267955893	Oct 17, 2022 (156)
17	HUGCELL_USP	ss5465687216	Oct 17, 2022 (156)
18	HUGCELL_USP	ss5465687217	Oct 17, 2022 (156)
19	TOMMO_GENOMICS	ss5714727059	Oct 17, 2022 (156)
20	EVA	ss5855287433	Oct 17, 2022 (156)
21	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221364424 (NC_000006.12:32400745::A 2892/74810) Row 221364425 (NC_000006.12:32400745::AA 6/74824) Row 221364426 (NC_000006.12:32400745::AAA 1/74826)...	-	Apr 26, 2021 (155)
32	14KJPN	NC_000006.12 - 32400746	Oct 17, 2022 (156)
33	ALFA	NC_000006.12 - 32400746	Apr 26, 2021 (155)

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).

Associated ID	History Updated (Build)
rs71750020	Jul 30, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4139456984	NC_000006.12:32400745:AAAAA:	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4139456983	NC_000006.12:32400745:AAAA:	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
6340264898	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4139456982	NC_000006.12:32400745:AA:	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6340264898	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3829836674	NC_000006.11:32368522:A:	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
48564163, ss4139456981, ss5465687217, ss5714727059, ss5855287433	NC_000006.12:32400745:A:	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
6340264898	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4139456953, ss5267955893, ss5465687216	NC_000006.12:32400745::A	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
6340264898	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss71699620	NT_007592.15:32308540::A	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4139456954	NC_000006.12:32400745::AA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6340264898	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4139456955	NC_000006.12:32400745::AAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4139456956	NC_000006.12:32400745::AAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4139456957	NC_000006.12:32400745::AAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss2998807613, ss3785427541	NC_000006.11:32368522::AAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6340264898	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4139456958	NC_000006.12:32400745::AAAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4139456959	NC_000006.12:32400745::AAAAAAAAAAA… NC_000006.12:32400745::AAAAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3493976527	NC_000006.12:32400745::AAAAAAAAAAA	NC_000006.12:32400745:AAAAAAAAAAAA… NC_000006.12:32400745:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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

No publications for rs55703731

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
Top▲ Help
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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs55703731