Canonical Allele Identifier: CA346365540
Gene: SOS1 HGNC NCBI

Linked Data

gnomAD v4: 2-39022709-A-C
MyVariant Identifiers: chr2:g.39249850A>C (hg19) chr2:g.39022709A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022709A>C , CM000664.2:g.39022709A>C GRCh38
NC_000002.11:g.39249850A>C , CM000664.1:g.39249850A>C GRCh37
NC_000002.10:g.39103354A>C NCBI36
NG_007530.1:g.102755T>G , LRG_754:g.102755T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1599T>G
ENST00000685279.1:c.486T>G ENSP00000509424.1:p.Asp162Glu
ENST00000688043.1:n.1940T>G
ENST00000689668.1:n.1726T>G
ENST00000690876.1:c.1608T>G ENSP00000508955.1:p.Asp536Glu
ENST00000691229.1:c.1608T>G ENSP00000510437.1:p.Asp536Glu
ENST00000692089.1:c.1608T>G ENSP00000508626.1:p.Asp536Glu
ENST00000692620.1:c.486T>G ENSP00000509311.1:p.Asp162Glu
ENST00000402219.8:c.1719T>G MANE Select ENSP00000384675.2:p.Asp573Glu
ENST00000395038.6:c.1719T>G ENSP00000378479.2:p.Asp573Glu
ENST00000402219.6:c.1719T>G ENSP00000384675.2:p.Asp573Glu
ENST00000426016.5:c.1719T>G ENSP00000387784.1:p.Asp573Glu
NM_005633.3:c.1719T>G , LRG_754t1:c.1719T>G NP_005624.2:p.Asp573Glu
XM_005264515.3:c.1719T>G XP_005264572.1:p.Asp573Glu
XM_011533060.1:c.1812T>G XP_011531362.1:p.Asp604Glu
XM_011533061.1:c.1812T>G XP_011531363.1:p.Asp604Glu
XM_011533062.1:c.1698T>G XP_011531364.1:p.Asp566Glu
XM_011533063.1:c.1695T>G XP_011531365.1:p.Asp565Glu
XM_011533064.1:c.1548T>G XP_011531366.1:p.Asp516Glu
XM_011533065.1:c.1812T>G XP_011531367.1:p.Asp604Glu
XM_011533066.1:c.654T>G XP_011531368.1:p.Asp218Glu
XM_005264515.4:c.1719T>G XP_005264572.1:p.Asp573Glu
XM_011533062.2:c.1698T>G XP_011531364.1:p.Asp566Glu
XM_011533064.2:c.1548T>G XP_011531366.1:p.Asp516Glu
NM_001382394.1:c.1698T>G NP_001369323.1:p.Asp566Glu
NM_001382395.1:c.1719T>G NP_001369324.1:p.Asp573Glu
NM_005633.4:c.1719T>G MANE Select NP_005624.2:p.Asp573Glu
Search 100 bp 5'
Search 100 bp 3'