Canonical Allele Identifier: CA389644247

Gene: SOS2

Linked Data

• gnomAD v4: 14-50153141-T-G
• MyVariant Identifiers: chr14:g.50619859T>G (hg19) ; chr14:g.50153141T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50153141T>G , CM000676.2:g.50153141T>G	GRCh38
NC_000014.8:g.50619859T>G , CM000676.1:g.50619859T>G	GRCh37
NC_000014.7:g.49689609T>G	NCBI36
NG_051073.1:g.83553A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.2090A>C MANE Select	ENSP00000216373.5:p.His697Pro
ENST00000216373.9:c.2090A>C	ENSP00000216373.5:p.His697Pro
ENST00000543680.5:c.1991A>C	ENSP00000445328.1:p.His664Pro
NM_006939.2:c.2090A>C	NP_008870.2:p.His697Pro
XM_005268021.1:c.1910A>C	XP_005268078.1:p.His637Pro
XM_011537103.1:c.2051A>C	XP_011535405.1:p.His684Pro
XM_011537104.1:c.2090A>C	XP_011535406.1:p.His697Pro
NM_006939.3:c.2090A>C	NP_008870.2:p.His697Pro
NM_006939.4:c.2090A>C MANE Select	NP_008870.2:p.His697Pro