Canonical Allele Identifier: CA7177247

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50159569C>T , CM000676.2:g.50159569C>T	GRCh38
NC_000014.8:g.50626287C>T , CM000676.1:g.50626287C>T	GRCh37
NC_000014.7:g.49696037C>T	NCBI36
NG_051073.1:g.77125G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.1714G>A MANE Select	NP_008870.2:p.Val572Ile
ENST00000216373.10:c.1714G>A MANE Select	ENSP00000216373.5:p.Val572Ile
NM_006939.2:c.1714G>A	NP_008870.2:p.Val572Ile
NM_006939.3:c.1714G>A	NP_008870.2:p.Val572Ile
ENST00000216373.9:c.1714G>A	ENSP00000216373.5:p.Val572Ile
ENST00000543680.5:c.1615G>A	ENSP00000445328.1:p.Val539Ile
ENST00000555794.2:c.828G>A
XM_005268021.1:c.1534G>A	XP_005268078.1:p.Val512Ile
XM_011537103.1:c.1675G>A	XP_011535405.1:p.Val559Ile
XM_011537104.1:c.1714G>A	XP_011535406.1:p.Val572Ile