Canonical Allele Identifier: CA486173086

Gene: SOS2

Linked Data

• gnomAD v4: 14-50130556-T-A
• MyVariant Identifiers: chr14:g.50597274T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130556T>A , CM000676.2:g.50130556T>A	GRCh38
NC_000014.8:g.50597274T>A , CM000676.1:g.50597274T>A	GRCh37
NC_000014.7:g.49667024T>A	NCBI36
NG_051073.1:g.106138A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3282A>T MANE Select	ENSP00000216373.5:p.Val1094=
ENST00000216373.9:c.3282A>T	ENSP00000216373.5:p.Val1094=
ENST00000543680.5:c.3183A>T	ENSP00000445328.1:p.Val1061=
NM_006939.2:c.3282A>T	NP_008870.2:p.Val1094=
XM_005268021.1:c.3102A>T	XP_005268078.1:p.Val1034=
XM_011537103.1:c.3243A>T	XP_011535405.1:p.Val1081=
NM_006939.3:c.3282A>T	NP_008870.2:p.Val1094=
NM_006939.4:c.3282A>T MANE Select	NP_008870.2:p.Val1094=