Canonical Allele Identifier: CA389646956

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180601-C-G
• MyVariant Identifiers: chr14:g.50647319C>G (hg19) ; chr14:g.50180601C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180601C>G , CM000676.2:g.50180601C>G	GRCh38
NC_000014.8:g.50647319C>G , CM000676.1:g.50647319C>G	GRCh37
NC_000014.7:g.49717069C>G	NCBI36
NG_051073.1:g.56093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.940G>C MANE Select	ENSP00000216373.5:p.Ala314Pro
ENST00000216373.9:c.940G>C	ENSP00000216373.5:p.Ala314Pro
ENST00000543680.5:c.940G>C	ENSP00000445328.1:p.Ala314Pro
ENST00000555794.2:c.54G>C
NM_006939.2:c.940G>C	NP_008870.2:p.Ala314Pro
XM_005268021.1:c.760G>C	XP_005268078.1:p.Ala254Pro
XM_011537103.1:c.901G>C	XP_011535405.1:p.Ala301Pro
XM_011537104.1:c.940G>C	XP_011535406.1:p.Ala314Pro
XR_943842.1:n.954-3186C>G
XR_943843.1:n.954-3186C>G
NM_006939.3:c.940G>C	NP_008870.2:p.Ala314Pro
NM_006939.4:c.940G>C MANE Select	NP_008870.2:p.Ala314Pro