Canonical Allele Identifier: CA10615222
Gene: SOS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.38985290G>A
GRCh37 chr2:g.39212431G>A
gnomAD v2:
2:39212431 G / A
gnomAD v3:
2:38985290 G / A
gnomAD v4:
chr2-38985290-G-A
Joint Max Group AF 0.00113304 (NFE)
Genomes Max Group AF 0.00114242 (NFE)
Exomes Max Group AF 0.00070849 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38985290G>A , CM000664.2:g.38985290G>A GRCh38
NC_000002.11:g.39212431G>A , CM000664.1:g.39212431G>A GRCh37
NC_000002.10:g.39065935G>A NCBI36
NG_007530.1:g.140174C>T , LRG_754:g.140174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685279.1:c.*534C>T ENSP00000509424.1:n.*534C>T
ENST00000686849.1:n.1327C>T
ENST00000690876.1:c.*1842C>T ENSP00000508955.1:n.*1842C>T
ENST00000692089.1:c.3399+2183C>T ENSP00000508626.1:n.3399+2183C>T
ENST00000692227.1:c.1235C>T ENSP00000509138.1:n.1235C>T
ENST00000402219.8:c.*534C>T MANE Select ENSP00000384675.2:n.*534C>T
ENST00000402219.6:c.*534C>T ENSP00000384675.2:n.*534C>T
ENST00000426016.5:c.*534C>T ENSP00000387784.1:n.*534C>T
NM_005633.3:c.*534C>T , LRG_754t1:c.*534C>T NP_005624.2:n.*534C>T
XM_005264515.3:c.*534C>T XP_005264572.1:n.*534C>T
XM_011533060.1:c.*534C>T XP_011531362.1:n.*534C>T
XM_011533061.1:c.*534C>T XP_011531363.1:n.*534C>T
XM_011533062.1:c.*534C>T XP_011531364.1:n.*534C>T
XM_011533063.1:c.*534C>T XP_011531365.1:n.*534C>T
XM_011533064.1:c.*534C>T XP_011531366.1:n.*534C>T
XM_011533065.1:c.*20C>T XP_011531367.1:n.*20C>T
XM_011533066.1:c.*534C>T XP_011531368.1:n.*534C>T
XM_005264515.4:c.*534C>T XP_005264572.1:n.*534C>T
XM_011533062.2:c.*534C>T XP_011531364.1:n.*534C>T
XM_011533064.2:c.*534C>T XP_011531366.1:n.*534C>T
NM_001382394.1:c.*534C>T NP_001369323.1:n.*534C>T
NM_001382395.1:c.*534C>T NP_001369324.1:n.*534C>T
NM_005633.4:c.*534C>T MANE Select NP_005624.2:n.*534C>T
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