Canonical Allele Identifier: CA7176674

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1605815
• ClinVar RCV Id: RCV002137446 ; RCV002372949
• dbSNP Id: rs776266602
• ExAC: 14:50585077 T / C
• gnomAD v2: 14-50585077-T-C
• gnomAD v3: 14-50118359-T-C
• gnomAD v4: 14-50118359-T-C
• MyVariant Identifiers: chr14:g.50585077T>C (hg19) ; chr14:g.50118359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50118359T>C , CM000676.2:g.50118359T>C	GRCh38
NC_000014.8:g.50585077T>C , CM000676.1:g.50585077T>C	GRCh37
NC_000014.7:g.49654827T>C	NCBI36
NG_051073.1:g.118335A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3984A>G MANE Select	ENSP00000216373.5:p.Ala1328=
ENST00000216373.9:c.3984A>G	ENSP00000216373.5:p.Ala1328=
ENST00000543680.5:c.3885A>G	ENSP00000445328.1:p.Ala1295=
NM_006939.2:c.3984A>G	NP_008870.2:p.Ala1328=
XM_005268021.1:c.3804A>G	XP_005268078.1:p.Ala1268=
XM_011537103.1:c.3945A>G	XP_011535405.1:p.Ala1315=
NM_006939.3:c.3984A>G	NP_008870.2:p.Ala1328=
NM_006939.4:c.3984A>G MANE Select	NP_008870.2:p.Ala1328=