Canonical Allele Identifier: CA7176746

Gene: SOS2

Linked Data

• ClinVar Variation Id: 421233
• ClinVar RCV Id: RCV000486673 ; RCV000652813 ; RCV002455928
• dbSNP Id: rs753151750
• ExAC: 14:50585477 G / A
• gnomAD v2: 14-50585477-G-A
• gnomAD v3: 14-50118759-G-A
• gnomAD v4: 14-50118759-G-A
• MyVariant Identifiers: chr14:g.50585477G>A (hg19) ; chr14:g.50118759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50118759G>A , CM000676.2:g.50118759G>A	GRCh38
NC_000014.8:g.50585477G>A , CM000676.1:g.50585477G>A	GRCh37
NC_000014.7:g.49655227G>A	NCBI36
NG_051073.1:g.117935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3584C>T MANE Select	ENSP00000216373.5:p.Ala1195Val
ENST00000216373.9:c.3584C>T	ENSP00000216373.5:p.Ala1195Val
ENST00000543680.5:c.3485C>T	ENSP00000445328.1:p.Ala1162Val
NM_006939.2:c.3584C>T	NP_008870.2:p.Ala1195Val
XM_005268021.1:c.3404C>T	XP_005268078.1:p.Ala1135Val
XM_011537103.1:c.3545C>T	XP_011535405.1:p.Ala1182Val
NM_006939.3:c.3584C>T	NP_008870.2:p.Ala1195Val
NM_006939.4:c.3584C>T MANE Select	NP_008870.2:p.Ala1195Val