Canonical Allele Identifier: CA389647698

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50649230T>G (hg19) ; chr14:g.50182512T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182512T>G , CM000676.2:g.50182512T>G	GRCh38
NC_000014.8:g.50649230T>G , CM000676.1:g.50649230T>G	GRCh37
NC_000014.7:g.49718980T>G	NCBI36
NG_051073.1:g.54182A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.809A>C MANE Select	ENSP00000216373.5:p.Glu270Ala
ENST00000216373.9:c.809A>C	ENSP00000216373.5:p.Glu270Ala
ENST00000543680.5:c.809A>C	ENSP00000445328.1:p.Glu270Ala
ENST00000556469.5:n.576A>C
NM_006939.2:c.809A>C	NP_008870.2:p.Glu270Ala
XM_005268021.1:c.629A>C	XP_005268078.1:p.Glu210Ala
XM_011537103.1:c.770A>C	XP_011535405.1:p.Glu257Ala
XM_011537104.1:c.809A>C	XP_011535406.1:p.Glu270Ala
XR_943842.1:n.954-1275T>G
XR_943843.1:n.954-1275T>G
NM_006939.3:c.809A>C	NP_008870.2:p.Glu270Ala
NM_006939.4:c.809A>C MANE Select	NP_008870.2:p.Glu270Ala