Canonical Allele Identifier: CA7177447

Gene: SOS2

Linked Data

• ClinVar Variation Id: 475762
• ClinVar RCV Id: RCV001813503 ; RCV002431706
• dbSNP Id: rs35396088
• ExAC: 14:50649223 A / G
• gnomAD v2: 14-50649223-A-G
• gnomAD v3: 14-50182505-A-G
• gnomAD v4: 14-50182505-A-G
• MyVariant Identifiers: chr14:g.50649223A>G (hg19) ; chr14:g.50182505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182505A>G , CM000676.2:g.50182505A>G	GRCh38
NC_000014.8:g.50649223A>G , CM000676.1:g.50649223A>G	GRCh37
NC_000014.7:g.49718973A>G	NCBI36
NG_051073.1:g.54189T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.816T>C MANE Select	ENSP00000216373.5:p.Ser272=
ENST00000216373.9:c.816T>C	ENSP00000216373.5:p.Ser272=
ENST00000543680.5:c.816T>C	ENSP00000445328.1:p.Ser272=
ENST00000556469.5:n.583T>C
NM_006939.2:c.816T>C	NP_008870.2:p.Ser272=
XM_005268021.1:c.636T>C	XP_005268078.1:p.Ser212=
XM_011537103.1:c.777T>C	XP_011535405.1:p.Ser259=
XM_011537104.1:c.816T>C	XP_011535406.1:p.Ser272=
XR_943842.1:n.954-1282A>G
XR_943843.1:n.954-1282A>G
NM_006939.3:c.816T>C	NP_008870.2:p.Ser272=
NM_006939.4:c.816T>C MANE Select	NP_008870.2:p.Ser272=