Canonical Allele Identifier: CA346366340
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39250203T>A (hg19) chr2:g.39023062T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023062T>A , CM000664.2:g.39023062T>A GRCh38
NC_000002.11:g.39250203T>A , CM000664.1:g.39250203T>A GRCh37
NC_000002.10:g.39103707T>A NCBI36
NG_007530.1:g.102402A>T , LRG_754:g.102402A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1246A>T
ENST00000685279.1:c.133A>T ENSP00000509424.1:p.Lys45Ter
ENST00000688043.1:n.1587A>T
ENST00000689668.1:n.1373A>T
ENST00000690876.1:c.1255A>T ENSP00000508955.1:p.Lys419Ter
ENST00000691229.1:c.1255A>T ENSP00000510437.1:p.Lys419Ter
ENST00000692089.1:c.1255A>T ENSP00000508626.1:p.Lys419Ter
ENST00000692620.1:c.133A>T ENSP00000509311.1:p.Lys45Ter
ENST00000402219.8:c.1366A>T MANE Select ENSP00000384675.2:p.Lys456Ter
ENST00000395038.6:c.1366A>T ENSP00000378479.2:p.Lys456Ter
ENST00000402219.6:c.1366A>T ENSP00000384675.2:p.Lys456Ter
ENST00000426016.5:c.1366A>T ENSP00000387784.1:p.Lys456Ter
ENST00000472480.1:n.210A>T
NM_005633.3:c.1366A>T , LRG_754t1:c.1366A>T NP_005624.2:p.Lys456Ter
XM_005264515.3:c.1366A>T XP_005264572.1:p.Lys456Ter
XM_011533060.1:c.1459A>T XP_011531362.1:p.Lys487Ter
XM_011533061.1:c.1459A>T XP_011531363.1:p.Lys487Ter
XM_011533062.1:c.1345A>T XP_011531364.1:p.Lys449Ter
XM_011533063.1:c.1342A>T XP_011531365.1:p.Lys448Ter
XM_011533064.1:c.1195A>T XP_011531366.1:p.Lys399Ter
XM_011533065.1:c.1459A>T XP_011531367.1:p.Lys487Ter
XM_011533066.1:c.301A>T XP_011531368.1:p.Lys101Ter
XM_005264515.4:c.1366A>T XP_005264572.1:p.Lys456Ter
XM_011533062.2:c.1345A>T XP_011531364.1:p.Lys449Ter
XM_011533064.2:c.1195A>T XP_011531366.1:p.Lys399Ter
NM_001382394.1:c.1345A>T NP_001369323.1:p.Lys449Ter
NM_001382395.1:c.1366A>T NP_001369324.1:p.Lys456Ter
NM_005633.4:c.1366A>T MANE Select NP_005624.2:p.Lys456Ter
Search 100 bp 5'
Search 100 bp 3'