Canonical Allele Identifier: CA45674662
Gene: SOS1 HGNC NCBI

Linked Data

dbSNP Id: rs781159925
gnomAD v2: 2-39250034-T-A
gnomAD v4: 2-39022893-T-A
MyVariant Identifiers: chr2:g.39250034T>A (hg19) chr2:g.39022893T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022893T>A , CM000664.2:g.39022893T>A GRCh38
NC_000002.11:g.39250034T>A , CM000664.1:g.39250034T>A GRCh37
NC_000002.10:g.39103538T>A NCBI36
NG_007530.1:g.102571A>T , LRG_754:g.102571A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1415A>T
ENST00000685279.1:c.302A>T ENSP00000509424.1:p.His101Leu
ENST00000688043.1:n.1756A>T
ENST00000689668.1:n.1542A>T
ENST00000690876.1:c.1424A>T ENSP00000508955.1:p.His475Leu
ENST00000691229.1:c.1424A>T ENSP00000510437.1:p.His475Leu
ENST00000692089.1:c.1424A>T ENSP00000508626.1:p.His475Leu
ENST00000692620.1:c.302A>T ENSP00000509311.1:p.His101Leu
ENST00000402219.8:c.1535A>T MANE Select ENSP00000384675.2:p.His512Leu
ENST00000395038.6:c.1535A>T ENSP00000378479.2:p.His512Leu
ENST00000402219.6:c.1535A>T ENSP00000384675.2:p.His512Leu
ENST00000426016.5:c.1535A>T ENSP00000387784.1:p.His512Leu
ENST00000472480.1:n.379A>T
NM_005633.3:c.1535A>T , LRG_754t1:c.1535A>T NP_005624.2:p.His512Leu
XM_005264515.3:c.1535A>T XP_005264572.1:p.His512Leu
XM_011533060.1:c.1628A>T XP_011531362.1:p.His543Leu
XM_011533061.1:c.1628A>T XP_011531363.1:p.His543Leu
XM_011533062.1:c.1514A>T XP_011531364.1:p.His505Leu
XM_011533063.1:c.1511A>T XP_011531365.1:p.His504Leu
XM_011533064.1:c.1364A>T XP_011531366.1:p.His455Leu
XM_011533065.1:c.1628A>T XP_011531367.1:p.His543Leu
XM_011533066.1:c.470A>T XP_011531368.1:p.His157Leu
XM_005264515.4:c.1535A>T XP_005264572.1:p.His512Leu
XM_011533062.2:c.1514A>T XP_011531364.1:p.His505Leu
XM_011533064.2:c.1364A>T XP_011531366.1:p.His455Leu
NM_001382394.1:c.1514A>T NP_001369323.1:p.His505Leu
NM_001382395.1:c.1535A>T NP_001369324.1:p.His512Leu
NM_005633.4:c.1535A>T MANE Select NP_005624.2:p.His512Leu
Search 100 bp 5'
Search 100 bp 3'