SNP Links for Protein (Select 89276787) - SNP

Select item 14898297471.

rs1489829747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70696299 (GRCh38)
2:70923431 (GRCh37)
Canonical SPDI:: NC_000002.12:70696298:G:A
Gene:: ADD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70696299G>A, NW_004504299.1:g.262581G>A, NG_029481.2:g.76945C>T, NM_017488.4:c.420C>T, NM_017488.3:c.420C>T, NM_001617.4:c.420C>T, NM_001617.3:c.420C>T, NM_017482.4:c.420C>T, NM_017482.3:c.420C>T, NM_001185054.2:c.420C>T, NM_001185054.1:c.420C>T, NM_001185055.2:c.468C>T, NM_001185055.1:c.468C>T, NC_000002.11:g.70923431G>A, XM_011532502.3:c.420C>T, XM_011532502.2:c.420C>T, XM_011532502.1:c.420C>T, NM_017483.2:c.420C>T, NM_017484.2:c.420C>T, NM_017483.1:c.420C>T, NM_017484.1:c.420C>T

Select item 14843856432.

rs1484385643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70690787 (GRCh38)
2:70917919 (GRCh37)
Canonical SPDI:: NC_000002.12:70690786:T:C
Gene:: ADD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70690787T>C, NC_000002.11:g.70917919T>C, NG_029481.2:g.82457A>G, NM_017488.4:c.848A>G, NM_017488.3:c.848A>G, NM_001617.4:c.848A>G, NM_001617.3:c.848A>G, NM_017482.4:c.848A>G, NM_017482.3:c.848A>G, NM_001185054.2:c.848A>G, NM_001185054.1:c.848A>G, NM_001185055.2:c.896A>G, NM_001185055.1:c.896A>G, NW_004504299.1:g.257069T>C, XM_011532502.3:c.848A>G, XM_011532502.2:c.848A>G, XM_011532502.1:c.848A>G, NP_059522.1:p.Lys283Arg, NP_001608.1:p.Lys283Arg, NP_059516.2:p.Lys283Arg, NP_001171983.1:p.Lys283Arg, NP_001171984.1:p.Lys299Arg, XP_011530804.1:p.Lys283Arg

Select item 14772560133.

rs1477256013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:70690927 (GRCh38)
2:70918059 (GRCh37)
Canonical SPDI:: NC_000002.12:70690926:C:G
Gene:: ADD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70690927C>G, NC_000002.11:g.70918059C>G, NG_029481.2:g.82317G>C, NM_017488.4:c.708G>C, NM_017488.3:c.708G>C, NM_001617.4:c.708G>C, NM_001617.3:c.708G>C, NM_017482.4:c.708G>C, NM_017482.3:c.708G>C, NM_001185054.2:c.708G>C, NM_001185054.1:c.708G>C, NM_001185055.2:c.756G>C, NM_001185055.1:c.756G>C, NW_004504299.1:g.257209C>G, XM_011532502.3:c.708G>C, XM_011532502.2:c.708G>C, XM_011532502.1:c.708G>C

Select item 14739511524.

rs1473951152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70690920 (GRCh38)
2:70918052 (GRCh37)
Canonical SPDI:: NC_000002.12:70690919:T:C
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.70690920T>C, NC_000002.11:g.70918052T>C, NG_029481.2:g.82324A>G, NM_017488.4:c.715A>G, NM_017488.3:c.715A>G, NM_001617.4:c.715A>G, NM_001617.3:c.715A>G, NM_017482.4:c.715A>G, NM_017482.3:c.715A>G, NM_001185054.2:c.715A>G, NM_001185054.1:c.715A>G, NM_001185055.2:c.763A>G, NM_001185055.1:c.763A>G, NW_004504299.1:g.257202T>C, XM_011532502.3:c.715A>G, XM_011532502.2:c.715A>G, XM_011532502.1:c.715A>G, NP_059522.1:p.Met239Val, NP_001608.1:p.Met239Val, NP_059516.2:p.Met239Val, NP_001171983.1:p.Met239Val, NP_001171984.1:p.Met255Val, XP_011530804.1:p.Met239Val

Select item 14709959995.

rs1470995999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:70706273 (GRCh38)
2:70933405 (GRCh37)
Canonical SPDI:: NC_000002.12:70706272:T:C,NC_000002.12:70706272:T:G
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.70706273T>C, NC_000002.12:g.70706273T>G, NW_004504299.1:g.272555T>C, NW_004504299.1:g.272555T>G, NG_029481.2:g.66971A>G, NG_029481.2:g.66971A>C, NM_017488.4:c.136A>G, NM_017488.4:c.136A>C, NM_017488.3:c.136A>G, NM_017488.3:c.136A>C, NM_001617.4:c.136A>G, NM_001617.4:c.136A>C, NM_001617.3:c.136A>G, NM_001617.3:c.136A>C, NM_017482.4:c.136A>G, NM_017482.4:c.136A>C, NM_017482.3:c.136A>G, NM_017482.3:c.136A>C, NM_001185054.2:c.136A>G, NM_001185054.2:c.136A>C, NM_001185054.1:c.136A>G, NM_001185054.1:c.136A>C, NM_001185055.2:c.184A>G, NM_001185055.2:c.184A>C, NM_001185055.1:c.184A>G, NM_001185055.1:c.184A>C, NC_000002.11:g.70933405T>C, NC_000002.11:g.70933405T>G, XM_011532502.3:c.136A>G, XM_011532502.3:c.136A>C, XM_011532502.2:c.136A>G, XM_011532502.2:c.136A>C, XM_011532502.1:c.136A>G, XM_011532502.1:c.136A>C, NM_017483.2:c.136A>G, NM_017483.2:c.136A>C, NM_017484.2:c.136A>G, NM_017484.2:c.136A>C, NM_017485.1:c.136A>G, NM_017485.1:c.136A>C, NM_017483.1:c.136A>G, NM_017483.1:c.136A>C, NM_017486.1:c.136A>G, NM_017486.1:c.136A>C, NM_017484.1:c.136A>G, NM_017484.1:c.136A>C, NM_017487.1:c.136A>G, NM_017487.1:c.136A>C, NP_059522.1:p.Asn46Asp, NP_059522.1:p.Asn46His, NP_001608.1:p.Asn46Asp, NP_001608.1:p.Asn46His, NP_059516.2:p.Asn46Asp, NP_059516.2:p.Asn46His, NP_001171983.1:p.Asn46Asp, NP_001171983.1:p.Asn46His, NP_001171984.1:p.Asn62Asp, NP_001171984.1:p.Asn62His, XP_011530804.1:p.Asn46Asp, XP_011530804.1:p.Asn46His

Select item 14616738146.

rs1461673814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:70683726 (GRCh38)
2:70910858 (GRCh37)
Canonical SPDI:: NC_000002.12:70683725:G:A,NC_000002.12:70683725:G:T
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70683726G>A, NC_000002.12:g.70683726G>T, NC_000002.11:g.70910858G>A, NC_000002.11:g.70910858G>T, NG_029481.2:g.89518C>T, NG_029481.2:g.89518C>A, NM_017488.4:c.990C>T, NM_017488.4:c.990C>A, NM_017488.3:c.990C>T, NM_017488.3:c.990C>A, NM_001617.4:c.990C>T, NM_001617.4:c.990C>A, NM_001617.3:c.990C>T, NM_001617.3:c.990C>A, NM_017482.4:c.990C>T, NM_017482.4:c.990C>A, NM_017482.3:c.990C>T, NM_017482.3:c.990C>A, NM_001185054.2:c.990C>T, NM_001185054.2:c.990C>A, NM_001185054.1:c.990C>T, NM_001185054.1:c.990C>A, NM_001185055.2:c.1038C>T, NM_001185055.2:c.1038C>A, NM_001185055.1:c.1038C>T, NM_001185055.1:c.1038C>A, NW_004504299.1:g.250008G>A, NW_004504299.1:g.250008G>T, XM_011532502.3:c.990C>T, XM_011532502.3:c.990C>A, XM_011532502.2:c.990C>T, XM_011532502.2:c.990C>A, XM_011532502.1:c.990C>T, XM_011532502.1:c.990C>A, NM_017485.1:c.324C>T, NM_017485.1:c.324C>A

Select item 14588672767.

rs1458867276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70678749 (GRCh38)
2:70905881 (GRCh37)
Canonical SPDI:: NC_000002.12:70678748:G:A
Gene:: ADD2 (Varview), LOC105374794 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70678749G>A, NC_000002.11:g.70905881G>A, NG_029481.2:g.94495C>T, NM_017488.4:c.1338C>T, NM_017488.3:c.1338C>T, NM_001617.4:c.1338C>T, NM_001617.3:c.1338C>T, NM_017482.4:c.1338C>T, NM_017482.3:c.1338C>T, NM_001185054.2:c.1338C>T, NM_001185054.1:c.1338C>T, NM_001185055.2:c.1386C>T, NM_001185055.1:c.1386C>T, NG_082571.1:g.1129G>A, NW_004504299.1:g.245031G>A, XM_011532502.3:c.1338C>T, XM_011532502.2:c.1338C>T, XM_011532502.1:c.1338C>T, NM_017485.1:c.672C>T, NM_017486.1:c.396C>T, NM_017487.1:c.396C>T

Select item 14574824668.

rs1457482466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70677791 (GRCh38)
2:70904923 (GRCh37)
Canonical SPDI:: NC_000002.12:70677790:A:G
Gene:: ADD2 (Varview), LOC105374794 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.00006/16 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000002.12:g.70677791A>G, NC_000002.11:g.70904923A>G, NG_029481.2:g.95453T>C, NM_017488.4:c.1470T>C, NM_017488.3:c.1470T>C, NM_001617.4:c.1470T>C, NM_001617.3:c.1470T>C, NM_017482.4:c.1470T>C, NM_017482.3:c.1470T>C, NM_001185054.2:c.1470T>C, NM_001185054.1:c.1470T>C, NM_001185055.2:c.1518T>C, NM_001185055.1:c.1518T>C, NG_082571.1:g.171A>G, NW_004504299.1:g.244073A>G, XM_011532502.3:c.1470T>C, XM_011532502.2:c.1470T>C, XM_011532502.1:c.1470T>C, NM_017485.1:c.804T>C, NM_017486.1:c.528T>C, NM_017487.1:c.528T>C

Select item 14546628699.

rs1454662869 [Homo sapiens]

Variant type:: DEL
Alleles:: TGCGGGG>- [Show Flanks]
Chromosome:: 2:70706362 (GRCh38)
2:70933494 (GRCh37)
Canonical SPDI:: NC_000002.12:70706361:TGCGGGG:
Gene:: ADD2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70706362_70706368del, NW_004504299.1:g.272644_272650del, NG_029481.2:g.66876_66882del, NM_017488.4:c.41_47del, NM_017488.3:c.41_47del, NM_001617.4:c.41_47del, NM_001617.3:c.41_47del, NM_017482.4:c.41_47del, NM_017482.3:c.41_47del, NM_001185054.2:c.41_47del, NM_001185054.1:c.41_47del, NM_001185055.2:c.89_95del, NM_001185055.1:c.89_95del, NC_000002.11:g.70933494_70933500del, XM_011532502.3:c.41_47del, XM_011532502.2:c.41_47del, XM_011532502.1:c.41_47del, NM_017483.2:c.41_47del, NM_017484.2:c.41_47del, NM_017485.1:c.41_47del, NM_017483.1:c.41_47del, NM_017486.1:c.41_47del, NM_017484.1:c.41_47del, NM_017487.1:c.41_47del, NP_059522.1:p.Pro14fs, NP_001608.1:p.Pro14fs, NP_059516.2:p.Pro14fs, NP_001171983.1:p.Pro14fs, NP_001171984.1:p.Pro30fs, XP_011530804.1:p.Pro14fs

Select item 144030442710.

rs1440304427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:70692417 (GRCh38)
2:70919549 (GRCh37)
Canonical SPDI:: NC_000002.12:70692416:G:C
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70692417G>C, NC_000002.11:g.70919549G>C, NG_029481.2:g.80827C>G, NM_017488.4:c.691C>G, NM_017488.3:c.691C>G, NM_001617.4:c.691C>G, NM_001617.3:c.691C>G, NM_017482.4:c.691C>G, NM_017482.3:c.691C>G, NM_001185054.2:c.691C>G, NM_001185054.1:c.691C>G, NM_001185055.2:c.739C>G, NM_001185055.1:c.739C>G, NW_004504299.1:g.258699G>C, XM_011532502.3:c.691C>G, XM_011532502.2:c.691C>G, XM_011532502.1:c.691C>G, NP_059522.1:p.Pro231Ala, NP_001608.1:p.Pro231Ala, NP_059516.2:p.Pro231Ala, NP_001171983.1:p.Pro231Ala, NP_001171984.1:p.Pro247Ala, XP_011530804.1:p.Pro231Ala

Select item 144027969211.

rs1440279692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:70706303 (GRCh38)
2:70933435 (GRCh37)
Canonical SPDI:: NC_000002.12:70706302:T:C,NC_000002.12:70706302:T:G
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70706303T>C, NC_000002.12:g.70706303T>G, NW_004504299.1:g.272585T>C, NW_004504299.1:g.272585T>G, NG_029481.2:g.66941A>G, NG_029481.2:g.66941A>C, NM_017488.4:c.106A>G, NM_017488.4:c.106A>C, NM_017488.3:c.106A>G, NM_017488.3:c.106A>C, NM_001617.4:c.106A>G, NM_001617.4:c.106A>C, NM_001617.3:c.106A>G, NM_001617.3:c.106A>C, NM_017482.4:c.106A>G, NM_017482.4:c.106A>C, NM_017482.3:c.106A>G, NM_017482.3:c.106A>C, NM_001185054.2:c.106A>G, NM_001185054.2:c.106A>C, NM_001185054.1:c.106A>G, NM_001185054.1:c.106A>C, NM_001185055.2:c.154A>G, NM_001185055.2:c.154A>C, NM_001185055.1:c.154A>G, NM_001185055.1:c.154A>C, NC_000002.11:g.70933435T>C, NC_000002.11:g.70933435T>G, XM_011532502.3:c.106A>G, XM_011532502.3:c.106A>C, XM_011532502.2:c.106A>G, XM_011532502.2:c.106A>C, XM_011532502.1:c.106A>G, XM_011532502.1:c.106A>C, NM_017483.2:c.106A>G, NM_017483.2:c.106A>C, NM_017484.2:c.106A>G, NM_017484.2:c.106A>C, NM_017485.1:c.106A>G, NM_017485.1:c.106A>C, NM_017483.1:c.106A>G, NM_017483.1:c.106A>C, NM_017486.1:c.106A>G, NM_017486.1:c.106A>C, NM_017484.1:c.106A>G, NM_017484.1:c.106A>C, NM_017487.1:c.106A>G, NM_017487.1:c.106A>C, NP_059522.1:p.Asn36Asp, NP_059522.1:p.Asn36His, NP_001608.1:p.Asn36Asp, NP_001608.1:p.Asn36His, NP_059516.2:p.Asn36Asp, NP_059516.2:p.Asn36His, NP_001171983.1:p.Asn36Asp, NP_001171983.1:p.Asn36His, NP_001171984.1:p.Asn52Asp, NP_001171984.1:p.Asn52His, XP_011530804.1:p.Asn36Asp, XP_011530804.1:p.Asn36His

Select item 143016990412.

rs1430169904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:70704346 (GRCh38)
2:70931478 (GRCh37)
Canonical SPDI:: NC_000002.12:70704345:G:A,NC_000002.12:70704345:G:T
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.70704346G>A, NC_000002.12:g.70704346G>T, NW_004504299.1:g.270628G>A, NW_004504299.1:g.270628G>T, NG_029481.2:g.68898C>T, NG_029481.2:g.68898C>A, NM_017488.4:c.297C>T, NM_017488.4:c.297C>A, NM_017488.3:c.297C>T, NM_017488.3:c.297C>A, NM_001617.4:c.297C>T, NM_001617.4:c.297C>A, NM_001617.3:c.297C>T, NM_001617.3:c.297C>A, NM_017482.4:c.297C>T, NM_017482.4:c.297C>A, NM_017482.3:c.297C>T, NM_017482.3:c.297C>A, NM_001185054.2:c.297C>T, NM_001185054.2:c.297C>A, NM_001185054.1:c.297C>T, NM_001185054.1:c.297C>A, NM_001185055.2:c.345C>T, NM_001185055.2:c.345C>A, NM_001185055.1:c.345C>T, NM_001185055.1:c.345C>A, NC_000002.11:g.70931478G>A, NC_000002.11:g.70931478G>T, XM_011532502.3:c.297C>T, XM_011532502.3:c.297C>A, XM_011532502.2:c.297C>T, XM_011532502.2:c.297C>A, XM_011532502.1:c.297C>T, XM_011532502.1:c.297C>A, NM_017483.2:c.297C>T, NM_017483.2:c.297C>A, NM_017484.2:c.297C>T, NM_017484.2:c.297C>A, NM_017483.1:c.297C>T, NM_017483.1:c.297C>A, NM_017484.1:c.297C>T, NM_017484.1:c.297C>A, NP_059522.1:p.His99Gln, NP_001608.1:p.His99Gln, NP_059516.2:p.His99Gln, NP_001171983.1:p.His99Gln, NP_001171984.1:p.His115Gln, XP_011530804.1:p.His99Gln

Select item 142549759213.

rs1425497592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70704353 (GRCh38)
2:70931485 (GRCh37)
Canonical SPDI:: NC_000002.12:70704352:G:A
Gene:: ADD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.70704353G>A, NW_004504299.1:g.270635G>A, NG_029481.2:g.68891C>T, NM_017488.4:c.290C>T, NM_017488.3:c.290C>T, NM_001617.4:c.290C>T, NM_001617.3:c.290C>T, NM_017482.4:c.290C>T, NM_017482.3:c.290C>T, NM_001185054.2:c.290C>T, NM_001185054.1:c.290C>T, NM_001185055.2:c.338C>T, NM_001185055.1:c.338C>T, NC_000002.11:g.70931485G>A, XM_011532502.3:c.290C>T, XM_011532502.2:c.290C>T, XM_011532502.1:c.290C>T, NM_017483.2:c.290C>T, NM_017484.2:c.290C>T, NM_017483.1:c.290C>T, NM_017484.1:c.290C>T, NP_059522.1:p.Thr97Ile, NP_001608.1:p.Thr97Ile, NP_059516.2:p.Thr97Ile, NP_001171983.1:p.Thr97Ile, NP_001171984.1:p.Thr113Ile, XP_011530804.1:p.Thr97Ile

Select item 141666033414.

rs1416660334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:70683742 (GRCh38)
2:70910874 (GRCh37)
Canonical SPDI:: NC_000002.12:70683741:C:G
Gene:: ADD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.70683742C>G, NC_000002.11:g.70910874C>G, NG_029481.2:g.89502G>C, NM_017488.4:c.974G>C, NM_017488.3:c.974G>C, NM_001617.4:c.974G>C, NM_001617.3:c.974G>C, NM_017482.4:c.974G>C, NM_017482.3:c.974G>C, NM_001185054.2:c.974G>C, NM_001185054.1:c.974G>C, NM_001185055.2:c.1022G>C, NM_001185055.1:c.1022G>C, NW_004504299.1:g.250024C>G, XM_011532502.3:c.974G>C, XM_011532502.2:c.974G>C, XM_011532502.1:c.974G>C, NM_017485.1:c.308G>C, NP_059522.1:p.Gly325Ala, NP_001608.1:p.Gly325Ala, NP_059516.2:p.Gly325Ala, NP_001171983.1:p.Gly325Ala, NP_001171984.1:p.Gly341Ala, XP_011530804.1:p.Gly325Ala

Select item 141449780715.

rs1414497807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:70690901 (GRCh38)
2:70918033 (GRCh37)
Canonical SPDI:: NC_000002.12:70690900:G:C,NC_000002.12:70690900:G:T
Gene:: ADD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70690901G>C, NC_000002.12:g.70690901G>T, NC_000002.11:g.70918033G>C, NC_000002.11:g.70918033G>T, NG_029481.2:g.82343C>G, NG_029481.2:g.82343C>A, NM_017488.4:c.734C>G, NM_017488.4:c.734C>A, NM_017488.3:c.734C>G, NM_017488.3:c.734C>A, NM_001617.4:c.734C>G, NM_001617.4:c.734C>A, NM_001617.3:c.734C>G, NM_001617.3:c.734C>A, NM_017482.4:c.734C>G, NM_017482.4:c.734C>A, NM_017482.3:c.734C>G, NM_017482.3:c.734C>A, NM_001185054.2:c.734C>G, NM_001185054.2:c.734C>A, NM_001185054.1:c.734C>G, NM_001185054.1:c.734C>A, NM_001185055.2:c.782C>G, NM_001185055.2:c.782C>A, NM_001185055.1:c.782C>G, NM_001185055.1:c.782C>A, NW_004504299.1:g.257183G>C, NW_004504299.1:g.257183G>T, XM_011532502.3:c.734C>G, XM_011532502.3:c.734C>A, XM_011532502.2:c.734C>G, XM_011532502.2:c.734C>A, XM_011532502.1:c.734C>G, XM_011532502.1:c.734C>A, NP_059522.1:p.Pro245Arg, NP_059522.1:p.Pro245His, NP_001608.1:p.Pro245Arg, NP_001608.1:p.Pro245His, NP_059516.2:p.Pro245Arg, NP_059516.2:p.Pro245His, NP_001171983.1:p.Pro245Arg, NP_001171983.1:p.Pro245His, NP_001171984.1:p.Pro261Arg, NP_001171984.1:p.Pro261His, XP_011530804.1:p.Pro245Arg, XP_011530804.1:p.Pro245His

Select item 140561123016.

rs1405611230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70704451 (GRCh38)
2:70931583 (GRCh37)
Canonical SPDI:: NC_000002.12:70704450:C:T
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.70704451C>T, NW_004504299.1:g.270733C>T, NG_029481.2:g.68793G>A, NM_017488.4:c.192G>A, NM_017488.3:c.192G>A, NM_001617.4:c.192G>A, NM_001617.3:c.192G>A, NM_017482.4:c.192G>A, NM_017482.3:c.192G>A, NM_001185054.2:c.192G>A, NM_001185054.1:c.192G>A, NM_001185055.2:c.240G>A, NM_001185055.1:c.240G>A, NC_000002.11:g.70931583C>T, XM_011532502.3:c.192G>A, XM_011532502.2:c.192G>A, XM_011532502.1:c.192G>A, NM_017483.2:c.192G>A, NM_017484.2:c.192G>A, NM_017483.1:c.192G>A, NM_017484.1:c.192G>A

Select item 140535267717.

rs1405352677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70683639 (GRCh38)
2:70910771 (GRCh37)
Canonical SPDI:: NC_000002.12:70683638:C:T
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70683639C>T, NC_000002.11:g.70910771C>T, NG_029481.2:g.89605G>A, NM_017488.4:c.1077G>A, NM_017488.3:c.1077G>A, NM_001617.4:c.1077G>A, NM_001617.3:c.1077G>A, NM_017482.4:c.1077G>A, NM_017482.3:c.1077G>A, NM_001185054.2:c.1077G>A, NM_001185054.1:c.1077G>A, NM_001185055.2:c.1125G>A, NM_001185055.1:c.1125G>A, NW_004504299.1:g.249921C>T, XM_011532502.3:c.1077G>A, XM_011532502.2:c.1077G>A, XM_011532502.1:c.1077G>A, NM_017485.1:c.411G>A

Select item 140505205418.

rs1405052054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:70688054 (GRCh38)
2:70915186 (GRCh37)
Canonical SPDI:: NC_000002.12:70688053:G:T
Gene:: ADD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.70688054G>T, NC_000002.11:g.70915186G>T, NG_029481.2:g.85190C>A, NM_017488.4:c.918C>A, NM_017488.3:c.918C>A, NM_001617.4:c.918C>A, NM_001617.3:c.918C>A, NM_017482.4:c.918C>A, NM_017482.3:c.918C>A, NM_001185054.2:c.918C>A, NM_001185054.1:c.918C>A, NM_001185055.2:c.966C>A, NM_001185055.1:c.966C>A, NW_004504299.1:g.254336G>T, XM_011532502.3:c.918C>A, XM_011532502.2:c.918C>A, XM_011532502.1:c.918C>A, NM_017485.1:c.252C>A

Select item 140368309719.

rs1403683097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:70696355 (GRCh38)
2:70923487 (GRCh37)
Canonical SPDI:: NC_000002.12:70696354:C:A
Gene:: ADD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.70696355C>A, NW_004504299.1:g.262637C>A, NG_029481.2:g.76889G>T, NM_017488.4:c.364G>T, NM_017488.3:c.364G>T, NM_001617.4:c.364G>T, NM_001617.3:c.364G>T, NM_017482.4:c.364G>T, NM_017482.3:c.364G>T, NM_001185054.2:c.364G>T, NM_001185054.1:c.364G>T, NM_001185055.2:c.412G>T, NM_001185055.1:c.412G>T, NC_000002.11:g.70923487C>A, XM_011532502.3:c.364G>T, XM_011532502.2:c.364G>T, XM_011532502.1:c.364G>T, NM_017483.2:c.364G>T, NM_017484.2:c.364G>T, NM_017483.1:c.364G>T, NM_017484.1:c.364G>T, NP_059522.1:p.Asp122Tyr, NP_001608.1:p.Asp122Tyr, NP_059516.2:p.Asp122Tyr, NP_001171983.1:p.Asp122Tyr, NP_001171984.1:p.Asp138Tyr, XP_011530804.1:p.Asp122Tyr

Select item 139725432920.

rs1397254329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70676763 (GRCh38)
2:70903895 (GRCh37)
Canonical SPDI:: NC_000002.12:70676762:T:G
Gene:: ADD2 (Varview), LOC105374794 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70676763T>G, NC_000002.11:g.70903895T>G, NG_029481.2:g.96481A>C, NM_017482.4:c.1626A>C, NM_017482.3:c.1626A>C, NM_001185055.2:c.1674A>C, NM_001185055.1:c.1674A>C, NW_004504299.1:g.243045T>G, NM_017484.2:c.708A>C, NM_017484.1:c.708A>C, NM_017487.1:c.684A>C, NP_059516.2:p.Glu542Asp, NP_001171984.1:p.Glu558Asp

dbSNP

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Result Filters

Clinical Significance

Validation Status

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Additional filters

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Items: 1 to 20 of 428

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