Canonical Allele Identifier: CA389644677
Community Standard Title: NM_006939.4(SOS2):c.1911A>C (p.Glu637Asp)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50158588T>G , CM000676.2:g.50158588T>G GRCh38
NC_000014.8:g.50625306T>G , CM000676.1:g.50625306T>G GRCh37
NC_000014.7:g.49695056T>G NCBI36
NG_051073.1:g.78106A>C

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1911A>C MANE Select NP_008870.2:p.Glu637Asp
ENST00000216373.10:c.1911A>C MANE Select ENSP00000216373.5:p.Glu637Asp
NM_006939.2:c.1911A>C NP_008870.2:p.Glu637Asp
NM_006939.3:c.1911A>C NP_008870.2:p.Glu637Asp
ENST00000216373.9:c.1911A>C ENSP00000216373.5:p.Glu637Asp
ENST00000543680.5:c.1812A>C ENSP00000445328.1:p.Glu604Asp
ENST00000555794.2:c.1025A>C
XM_005268021.1:c.1731A>C XP_005268078.1:p.Glu577Asp
XM_011537103.1:c.1872A>C XP_011535405.1:p.Glu624Asp
XM_011537104.1:c.1911A>C XP_011535406.1:p.Glu637Asp