Canonical Allele Identifier: CA389646936

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180592-C-A
• MyVariant Identifiers: chr14:g.50647310C>A (hg19) ; chr14:g.50180592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180592C>A , CM000676.2:g.50180592C>A	GRCh38
NC_000014.8:g.50647310C>A , CM000676.1:g.50647310C>A	GRCh37
NC_000014.7:g.49717060C>A	NCBI36
NG_051073.1:g.56102G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.949G>T MANE Select	ENSP00000216373.5:p.Ala317Ser
ENST00000216373.9:c.949G>T	ENSP00000216373.5:p.Ala317Ser
ENST00000543680.5:c.949G>T	ENSP00000445328.1:p.Ala317Ser
ENST00000555794.2:c.63G>T
NM_006939.2:c.949G>T	NP_008870.2:p.Ala317Ser
XM_005268021.1:c.769G>T	XP_005268078.1:p.Ala257Ser
XM_011537103.1:c.910G>T	XP_011535405.1:p.Ala304Ser
XM_011537104.1:c.949G>T	XP_011535406.1:p.Ala317Ser
XR_943842.1:n.954-3195C>A
XR_943843.1:n.954-3195C>A
NM_006939.3:c.949G>T	NP_008870.2:p.Ala317Ser
NM_006939.4:c.949G>T MANE Select	NP_008870.2:p.Ala317Ser