Canonical Allele Identifier: CA260721597

Gene: SOS2

Linked Data

• dbSNP Id: rs778339464
• gnomAD v4: 14-50199744-G-A
• MyVariant Identifiers: chr14:g.50666462G>A (hg19) ; chr14:g.50199744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199744G>A , CM000676.2:g.50199744G>A	GRCh38
NC_000014.8:g.50666462G>A , CM000676.1:g.50666462G>A	GRCh37
NC_000014.7:g.49736212G>A	NCBI36
NG_051073.1:g.36950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.457C>T MANE Select	ENSP00000216373.5:p.Arg153Trp
ENST00000216373.9:c.457C>T	ENSP00000216373.5:p.Arg153Trp
ENST00000543680.5:c.457C>T	ENSP00000445328.1:p.Arg153Trp
ENST00000555666.1:n.636C>T
ENST00000556469.5:n.428C>T
NM_006939.2:c.457C>T	NP_008870.2:p.Arg153Trp
XM_005268021.1:c.277C>T	XP_005268078.1:p.Arg93Trp
XM_011537103.1:c.418C>T	XP_011535405.1:p.Arg140Trp
XM_011537104.1:c.457C>T	XP_011535406.1:p.Arg153Trp
XR_943842.1:n.1039+15872G>A
XR_943843.1:n.1039+15872G>A
NM_006939.3:c.457C>T	NP_008870.2:p.Arg153Trp
NM_006939.4:c.457C>T MANE Select	NP_008870.2:p.Arg153Trp