Canonical Allele Identifier: CA389640405

Gene: SOS2

Linked Data

• gnomAD v4: 14-50130535-A-T
• MyVariant Identifiers: chr14:g.50597253A>T (hg19) ; chr14:g.50130535A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130535A>T , CM000676.2:g.50130535A>T	GRCh38
NC_000014.8:g.50597253A>T , CM000676.1:g.50597253A>T	GRCh37
NC_000014.7:g.49667003A>T	NCBI36
NG_051073.1:g.106159T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3303T>A MANE Select	ENSP00000216373.5:p.Ser1101Arg
ENST00000216373.9:c.3303T>A	ENSP00000216373.5:p.Ser1101Arg
ENST00000543680.5:c.3204T>A	ENSP00000445328.1:p.Ser1068Arg
NM_006939.2:c.3303T>A	NP_008870.2:p.Ser1101Arg
XM_005268021.1:c.3123T>A	XP_005268078.1:p.Ser1041Arg
XM_011537103.1:c.3264T>A	XP_011535405.1:p.Ser1088Arg
NM_006939.3:c.3303T>A	NP_008870.2:p.Ser1101Arg
NM_006939.4:c.3303T>A MANE Select	NP_008870.2:p.Ser1101Arg