Canonical Allele Identifier: CA389644248

Gene: SOS2

Linked Data

• gnomAD v4: 14-50153142-G-A
• MyVariant Identifiers: chr14:g.50619860G>A (hg19) ; chr14:g.50153142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50153142G>A , CM000676.2:g.50153142G>A	GRCh38
NC_000014.8:g.50619860G>A , CM000676.1:g.50619860G>A	GRCh37
NC_000014.7:g.49689610G>A	NCBI36
NG_051073.1:g.83552C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2089C>T MANE Select	ENSP00000216373.5:p.His697Tyr
ENST00000216373.9:c.2089C>T	ENSP00000216373.5:p.His697Tyr
ENST00000543680.5:c.1990C>T	ENSP00000445328.1:p.His664Tyr
NM_006939.2:c.2089C>T	NP_008870.2:p.His697Tyr
XM_005268021.1:c.1909C>T	XP_005268078.1:p.His637Tyr
XM_011537103.1:c.2050C>T	XP_011535405.1:p.His684Tyr
XM_011537104.1:c.2089C>T	XP_011535406.1:p.His697Tyr
NM_006939.3:c.2089C>T	NP_008870.2:p.His697Tyr
NM_006939.4:c.2089C>T MANE Select	NP_008870.2:p.His697Tyr