Canonical Allele Identifier: CA346366063
Gene: SOS1 HGNC NCBI

Linked Data

gnomAD v4: 2-39022942-T-A
MyVariant Identifiers: chr2:g.39250083T>A (hg19) chr2:g.39022942T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022942T>A , CM000664.2:g.39022942T>A GRCh38
NC_000002.11:g.39250083T>A , CM000664.1:g.39250083T>A GRCh37
NC_000002.10:g.39103587T>A NCBI36
NG_007530.1:g.102522A>T , LRG_754:g.102522A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1366A>T
ENST00000685279.1:c.253A>T ENSP00000509424.1:p.Met85Leu
ENST00000688043.1:n.1707A>T
ENST00000689668.1:n.1493A>T
ENST00000690876.1:c.1375A>T ENSP00000508955.1:p.Met459Leu
ENST00000691229.1:c.1375A>T ENSP00000510437.1:p.Met459Leu
ENST00000692089.1:c.1375A>T ENSP00000508626.1:p.Met459Leu
ENST00000692620.1:c.253A>T ENSP00000509311.1:p.Met85Leu
ENST00000402219.8:c.1486A>T MANE Select ENSP00000384675.2:p.Met496Leu
ENST00000395038.6:c.1486A>T ENSP00000378479.2:p.Met496Leu
ENST00000402219.6:c.1486A>T ENSP00000384675.2:p.Met496Leu
ENST00000426016.5:c.1486A>T ENSP00000387784.1:p.Met496Leu
ENST00000472480.1:n.330A>T
NM_005633.3:c.1486A>T , LRG_754t1:c.1486A>T NP_005624.2:p.Met496Leu
XM_005264515.3:c.1486A>T XP_005264572.1:p.Met496Leu
XM_011533060.1:c.1579A>T XP_011531362.1:p.Met527Leu
XM_011533061.1:c.1579A>T XP_011531363.1:p.Met527Leu
XM_011533062.1:c.1465A>T XP_011531364.1:p.Met489Leu
XM_011533063.1:c.1462A>T XP_011531365.1:p.Met488Leu
XM_011533064.1:c.1315A>T XP_011531366.1:p.Met439Leu
XM_011533065.1:c.1579A>T XP_011531367.1:p.Met527Leu
XM_011533066.1:c.421A>T XP_011531368.1:p.Met141Leu
XM_005264515.4:c.1486A>T XP_005264572.1:p.Met496Leu
XM_011533062.2:c.1465A>T XP_011531364.1:p.Met489Leu
XM_011533064.2:c.1315A>T XP_011531366.1:p.Met439Leu
NM_001382394.1:c.1465A>T NP_001369323.1:p.Met489Leu
NM_001382395.1:c.1486A>T NP_001369324.1:p.Met496Leu
NM_005633.4:c.1486A>T MANE Select NP_005624.2:p.Met496Leu
Search 100 bp 5'
Search 100 bp 3'