Canonical Allele Identifier: CA389647132

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180676-C-T
• MyVariant Identifiers: chr14:g.50647394C>T (hg19) ; chr14:g.50180676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180676C>T , CM000676.2:g.50180676C>T	GRCh38
NC_000014.8:g.50647394C>T , CM000676.1:g.50647394C>T	GRCh37
NC_000014.7:g.49717144C>T	NCBI36
NG_051073.1:g.56018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.865G>A MANE Select	ENSP00000216373.5:p.Ala289Thr
ENST00000216373.9:c.865G>A	ENSP00000216373.5:p.Ala289Thr
ENST00000543680.5:c.865G>A	ENSP00000445328.1:p.Ala289Thr
NM_006939.2:c.865G>A	NP_008870.2:p.Ala289Thr
XM_005268021.1:c.685G>A	XP_005268078.1:p.Ala229Thr
XM_011537103.1:c.826G>A	XP_011535405.1:p.Ala276Thr
XM_011537104.1:c.865G>A	XP_011535406.1:p.Ala289Thr
XR_943842.1:n.954-3111C>T
XR_943843.1:n.954-3111C>T
NM_006939.3:c.865G>A	NP_008870.2:p.Ala289Thr
NM_006939.4:c.865G>A MANE Select	NP_008870.2:p.Ala289Thr