Canonical Allele Identifier: CA486169371

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180599-G-T
• MyVariant Identifiers: chr14:g.50647317G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180599G>T , CM000676.2:g.50180599G>T	GRCh38
NC_000014.8:g.50647317G>T , CM000676.1:g.50647317G>T	GRCh37
NC_000014.7:g.49717067G>T	NCBI36
NG_051073.1:g.56095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.942C>A MANE Select	ENSP00000216373.5:p.Ala314=
ENST00000216373.9:c.942C>A	ENSP00000216373.5:p.Ala314=
ENST00000543680.5:c.942C>A	ENSP00000445328.1:p.Ala314=
ENST00000555794.2:c.56C>A
NM_006939.2:c.942C>A	NP_008870.2:p.Ala314=
XM_005268021.1:c.762C>A	XP_005268078.1:p.Ala254=
XM_011537103.1:c.903C>A	XP_011535405.1:p.Ala301=
XM_011537104.1:c.942C>A	XP_011535406.1:p.Ala314=
XR_943842.1:n.954-3188G>T
XR_943843.1:n.954-3188G>T
NM_006939.3:c.942C>A	NP_008870.2:p.Ala314=
NM_006939.4:c.942C>A MANE Select	NP_008870.2:p.Ala314=