Canonical Allele Identifier: CA389647093

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50647378T>A (hg19) ; chr14:g.50180660T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180660T>A , CM000676.2:g.50180660T>A	GRCh38
NC_000014.8:g.50647378T>A , CM000676.1:g.50647378T>A	GRCh37
NC_000014.7:g.49717128T>A	NCBI36
NG_051073.1:g.56034A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.881A>T MANE Select	ENSP00000216373.5:p.Glu294Val
ENST00000216373.9:c.881A>T	ENSP00000216373.5:p.Glu294Val
ENST00000543680.5:c.881A>T	ENSP00000445328.1:p.Glu294Val
NM_006939.2:c.881A>T	NP_008870.2:p.Glu294Val
XM_005268021.1:c.701A>T	XP_005268078.1:p.Glu234Val
XM_011537103.1:c.842A>T	XP_011535405.1:p.Glu281Val
XM_011537104.1:c.881A>T	XP_011535406.1:p.Glu294Val
XR_943842.1:n.954-3127T>A
XR_943843.1:n.954-3127T>A
NM_006939.3:c.881A>T	NP_008870.2:p.Glu294Val
NM_006939.4:c.881A>T MANE Select	NP_008870.2:p.Glu294Val