Canonical Allele Identifier: CA425866635
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39249952T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022811T>A , CM000664.2:g.39022811T>A GRCh38
NC_000002.11:g.39249952T>A , CM000664.1:g.39249952T>A GRCh37
NC_000002.10:g.39103456T>A NCBI36
NG_007530.1:g.102653A>T , LRG_754:g.102653A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1497A>T
ENST00000685279.1:c.384A>T ENSP00000509424.1:p.Ala128=
ENST00000688043.1:n.1838A>T
ENST00000689668.1:n.1624A>T
ENST00000690876.1:c.1506A>T ENSP00000508955.1:p.Ala502=
ENST00000691229.1:c.1506A>T ENSP00000510437.1:p.Ala502=
ENST00000692089.1:c.1506A>T ENSP00000508626.1:p.Ala502=
ENST00000692620.1:c.384A>T ENSP00000509311.1:p.Ala128=
ENST00000402219.8:c.1617A>T MANE Select ENSP00000384675.2:p.Ala539=
ENST00000395038.6:c.1617A>T ENSP00000378479.2:p.Ala539=
ENST00000402219.6:c.1617A>T ENSP00000384675.2:p.Ala539=
ENST00000426016.5:c.1617A>T ENSP00000387784.1:p.Ala539=
NM_005633.3:c.1617A>T , LRG_754t1:c.1617A>T NP_005624.2:p.Ala539=
XM_005264515.3:c.1617A>T XP_005264572.1:p.Ala539=
XM_011533060.1:c.1710A>T XP_011531362.1:p.Ala570=
XM_011533061.1:c.1710A>T XP_011531363.1:p.Ala570=
XM_011533062.1:c.1596A>T XP_011531364.1:p.Ala532=
XM_011533063.1:c.1593A>T XP_011531365.1:p.Ala531=
XM_011533064.1:c.1446A>T XP_011531366.1:p.Ala482=
XM_011533065.1:c.1710A>T XP_011531367.1:p.Ala570=
XM_011533066.1:c.552A>T XP_011531368.1:p.Ala184=
XM_005264515.4:c.1617A>T XP_005264572.1:p.Ala539=
XM_011533062.2:c.1596A>T XP_011531364.1:p.Ala532=
XM_011533064.2:c.1446A>T XP_011531366.1:p.Ala482=
NM_001382394.1:c.1596A>T NP_001369323.1:p.Ala532=
NM_001382395.1:c.1617A>T NP_001369324.1:p.Ala539=
NM_005633.4:c.1617A>T MANE Select NP_005624.2:p.Ala539=
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