Canonical Allele Identifier: CA389640331

Gene: SOS2

Linked Data

• gnomAD v4: 14-50130503-C-A
• MyVariant Identifiers: chr14:g.50597221C>A (hg19) ; chr14:g.50130503C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130503C>A , CM000676.2:g.50130503C>A	GRCh38
NC_000014.8:g.50597221C>A , CM000676.1:g.50597221C>A	GRCh37
NC_000014.7:g.49666971C>A	NCBI36
NG_051073.1:g.106191G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.3335G>T MANE Select	ENSP00000216373.5:p.Cys1112Phe
ENST00000216373.9:c.3335G>T	ENSP00000216373.5:p.Cys1112Phe
ENST00000543680.5:c.3236G>T	ENSP00000445328.1:p.Cys1079Phe
NM_006939.2:c.3335G>T	NP_008870.2:p.Cys1112Phe
XM_005268021.1:c.3155G>T	XP_005268078.1:p.Cys1052Phe
XM_011537103.1:c.3296G>T	XP_011535405.1:p.Cys1099Phe
NM_006939.3:c.3335G>T	NP_008870.2:p.Cys1112Phe
NM_006939.4:c.3335G>T MANE Select	NP_008870.2:p.Cys1112Phe