Canonical Allele Identifier: CA389645473

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50159716T>C , CM000676.2:g.50159716T>C	GRCh38
NC_000014.8:g.50626434T>C , CM000676.1:g.50626434T>C	GRCh37
NC_000014.7:g.49696184T>C	NCBI36
NG_051073.1:g.76978A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.1567A>G MANE Select	NP_008870.2:p.Ile523Val
ENST00000216373.10:c.1567A>G MANE Select	ENSP00000216373.5:p.Ile523Val
NM_006939.2:c.1567A>G	NP_008870.2:p.Ile523Val
NM_006939.3:c.1567A>G	NP_008870.2:p.Ile523Val
ENST00000216373.9:c.1567A>G	ENSP00000216373.5:p.Ile523Val
ENST00000543680.5:c.1468A>G	ENSP00000445328.1:p.Ile490Val
ENST00000555794.2:c.681A>G
XM_005268021.1:c.1387A>G	XP_005268078.1:p.Ile463Val
XM_011537103.1:c.1528A>G	XP_011535405.1:p.Ile510Val
XM_011537104.1:c.1567A>G	XP_011535406.1:p.Ile523Val