Canonical Allele Identifier: CA389649702

Gene: SOS2

Linked Data

• dbSNP Id: rs1401319142
• gnomAD v2: 14-50666528-C-G
• gnomAD v4: 14-50199810-C-G
• MyVariant Identifiers: chr14:g.50666528C>G (hg19) ; chr14:g.50199810C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199810C>G , CM000676.2:g.50199810C>G	GRCh38
NC_000014.8:g.50666528C>G , CM000676.1:g.50666528C>G	GRCh37
NC_000014.7:g.49736278C>G	NCBI36
NG_051073.1:g.36884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.391G>C MANE Select	ENSP00000216373.5:p.Val131Leu
ENST00000216373.9:c.391G>C	ENSP00000216373.5:p.Val131Leu
ENST00000543680.5:c.391G>C	ENSP00000445328.1:p.Val131Leu
ENST00000555666.1:n.570G>C
ENST00000556469.5:n.362G>C
NM_006939.2:c.391G>C	NP_008870.2:p.Val131Leu
XM_005268021.1:c.211G>C	XP_005268078.1:p.Val71Leu
XM_011537103.1:c.352G>C	XP_011535405.1:p.Val118Leu
XM_011537104.1:c.391G>C	XP_011535406.1:p.Val131Leu
XR_943842.1:n.1039+15938C>G
XR_943843.1:n.1039+15938C>G
NM_006939.3:c.391G>C	NP_008870.2:p.Val131Leu
NM_006939.4:c.391G>C MANE Select	NP_008870.2:p.Val131Leu