Canonical Allele Identifier: CA389647101

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50647381T>A (hg19) ; chr14:g.50180663T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180663T>A , CM000676.2:g.50180663T>A	GRCh38
NC_000014.8:g.50647381T>A , CM000676.1:g.50647381T>A	GRCh37
NC_000014.7:g.49717131T>A	NCBI36
NG_051073.1:g.56031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.878A>T MANE Select	ENSP00000216373.5:p.Tyr293Phe
ENST00000216373.9:c.878A>T	ENSP00000216373.5:p.Tyr293Phe
ENST00000543680.5:c.878A>T	ENSP00000445328.1:p.Tyr293Phe
NM_006939.2:c.878A>T	NP_008870.2:p.Tyr293Phe
XM_005268021.1:c.698A>T	XP_005268078.1:p.Tyr233Phe
XM_011537103.1:c.839A>T	XP_011535405.1:p.Tyr280Phe
XM_011537104.1:c.878A>T	XP_011535406.1:p.Tyr293Phe
XR_943842.1:n.954-3124T>A
XR_943843.1:n.954-3124T>A
NM_006939.3:c.878A>T	NP_008870.2:p.Tyr293Phe
NM_006939.4:c.878A>T MANE Select	NP_008870.2:p.Tyr293Phe