Canonical Allele Identifier: CA389647053

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50647361T>A (hg19) ; chr14:g.50180643T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180643T>A , CM000676.2:g.50180643T>A	GRCh38
NC_000014.8:g.50647361T>A , CM000676.1:g.50647361T>A	GRCh37
NC_000014.7:g.49717111T>A	NCBI36
NG_051073.1:g.56051A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.898A>T MANE Select	ENSP00000216373.5:p.Ile300Phe
ENST00000216373.9:c.898A>T	ENSP00000216373.5:p.Ile300Phe
ENST00000543680.5:c.898A>T	ENSP00000445328.1:p.Ile300Phe
ENST00000555794.2:c.12A>T
NM_006939.2:c.898A>T	NP_008870.2:p.Ile300Phe
XM_005268021.1:c.718A>T	XP_005268078.1:p.Ile240Phe
XM_011537103.1:c.859A>T	XP_011535405.1:p.Ile287Phe
XM_011537104.1:c.898A>T	XP_011535406.1:p.Ile300Phe
XR_943842.1:n.954-3144T>A
XR_943843.1:n.954-3144T>A
NM_006939.3:c.898A>T	NP_008870.2:p.Ile300Phe
NM_006939.4:c.898A>T MANE Select	NP_008870.2:p.Ile300Phe