Canonical Allele Identifier: CA389640396

Gene: SOS2

Linked Data

• dbSNP Id: rs1227392390
• gnomAD v2: 14-50597249-A-C
• gnomAD v4: 14-50130531-A-C
• MyVariant Identifiers: chr14:g.50597249A>C (hg19) ; chr14:g.50130531A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130531A>C , CM000676.2:g.50130531A>C	GRCh38
NC_000014.8:g.50597249A>C , CM000676.1:g.50597249A>C	GRCh37
NC_000014.7:g.49666999A>C	NCBI36
NG_051073.1:g.106163T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3307T>G MANE Select	ENSP00000216373.5:p.Phe1103Val
ENST00000216373.9:c.3307T>G	ENSP00000216373.5:p.Phe1103Val
ENST00000543680.5:c.3208T>G	ENSP00000445328.1:p.Phe1070Val
NM_006939.2:c.3307T>G	NP_008870.2:p.Phe1103Val
XM_005268021.1:c.3127T>G	XP_005268078.1:p.Phe1043Val
XM_011537103.1:c.3268T>G	XP_011535405.1:p.Phe1090Val
NM_006939.3:c.3307T>G	NP_008870.2:p.Phe1103Val
NM_006939.4:c.3307T>G MANE Select	NP_008870.2:p.Phe1103Val