Canonical Allele Identifier: CA389646944

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180595-G-T
• MyVariant Identifiers: chr14:g.50647313G>T (hg19) ; chr14:g.50180595G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180595G>T , CM000676.2:g.50180595G>T	GRCh38
NC_000014.8:g.50647313G>T , CM000676.1:g.50647313G>T	GRCh37
NC_000014.7:g.49717063G>T	NCBI36
NG_051073.1:g.56099C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.946C>A MANE Select	ENSP00000216373.5:p.Pro316Thr
ENST00000216373.9:c.946C>A	ENSP00000216373.5:p.Pro316Thr
ENST00000543680.5:c.946C>A	ENSP00000445328.1:p.Pro316Thr
ENST00000555794.2:c.60C>A
NM_006939.2:c.946C>A	NP_008870.2:p.Pro316Thr
XM_005268021.1:c.766C>A	XP_005268078.1:p.Pro256Thr
XM_011537103.1:c.907C>A	XP_011535405.1:p.Pro303Thr
XM_011537104.1:c.946C>A	XP_011535406.1:p.Pro316Thr
XR_943842.1:n.954-3192G>T
XR_943843.1:n.954-3192G>T
NM_006939.3:c.946C>A	NP_008870.2:p.Pro316Thr
NM_006939.4:c.946C>A MANE Select	NP_008870.2:p.Pro316Thr