Canonical Allele Identifier: CA389649754

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199834-C-G
• MyVariant Identifiers: chr14:g.50666552C>G (hg19) ; chr14:g.50199834C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199834C>G , CM000676.2:g.50199834C>G	GRCh38
NC_000014.8:g.50666552C>G , CM000676.1:g.50666552C>G	GRCh37
NC_000014.7:g.49736302C>G	NCBI36
NG_051073.1:g.36860G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.367G>C MANE Select	ENSP00000216373.5:p.Asp123His
ENST00000216373.9:c.367G>C	ENSP00000216373.5:p.Asp123His
ENST00000543680.5:c.367G>C	ENSP00000445328.1:p.Asp123His
ENST00000555666.1:n.546G>C
ENST00000556469.5:n.338G>C
NM_006939.2:c.367G>C	NP_008870.2:p.Asp123His
XM_005268021.1:c.187G>C	XP_005268078.1:p.Asp63His
XM_011537103.1:c.328G>C	XP_011535405.1:p.Asp110His
XM_011537104.1:c.367G>C	XP_011535406.1:p.Asp123His
XR_943842.1:n.1039+15962C>G
XR_943843.1:n.1039+15962C>G
NM_006939.3:c.367G>C	NP_008870.2:p.Asp123His
NM_006939.4:c.367G>C MANE Select	NP_008870.2:p.Asp123His