Canonical Allele Identifier: CA260708298

Gene: SOS2

Linked Data

• dbSNP Id: rs1007422460
• gnomAD v2: 14-50649131-C-A
• gnomAD v4: 14-50182413-C-A
• MyVariant Identifiers: chr14:g.50649131C>A (hg19) ; chr14:g.50182413C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182413C>A , CM000676.2:g.50182413C>A	GRCh38
NC_000014.8:g.50649131C>A , CM000676.1:g.50649131C>A	GRCh37
NC_000014.7:g.49718881C>A	NCBI36
NG_051073.1:g.54281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.858+50G>T MANE Select	ENSP00000216373.5:n.858+50G>T
ENST00000216373.9:c.858+50G>T	ENSP00000216373.5:n.858+50G>T
ENST00000543680.5:c.858+50G>T	ENSP00000445328.1:n.858+50G>T
NM_006939.2:c.858+50G>T	NP_008870.2:n.858+50G>T
XM_005268021.1:c.678+50G>T	XP_005268078.1:n.678+50G>T
XM_011537103.1:c.819+50G>T	XP_011535405.1:n.819+50G>T
XM_011537104.1:c.858+50G>T	XP_011535406.1:n.858+50G>T
XR_943842.1:n.954-1374C>A
XR_943843.1:n.954-1374C>A
NM_006939.3:c.858+50G>T	NP_008870.2:n.858+50G>T
NM_006939.4:c.858+50G>T MANE Select	NP_008870.2:n.858+50G>T