Canonical Allele Identifier: CA355490443

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170724971T>A (hg19) ; chr3:g.171007182T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007182T>A , CM000665.2:g.171007182T>A	GRCh38
NC_000003.11:g.170724971T>A , CM000665.1:g.170724971T>A	GRCh37
NC_000003.10:g.172207665T>A	NCBI36
NG_008108.1:g.24798A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.578A>T MANE Select	ENSP00000323568.3:p.Gln193Leu
ENST00000314251.7:c.578A>T	ENSP00000323568.3:p.Gln193Leu
ENST00000461867.1:c.59A>T	ENSP00000418888.1:p.Gln20Leu
ENST00000469787.1:c.*45A>T	ENSP00000417918.1:n.*45A>T
ENST00000471379.1:n.289A>T
ENST00000497642.5:c.*45A>T	ENSP00000418456.1:n.*45A>T
NM_000340.1:c.578A>T	NP_000331.1:p.Gln193Leu
NM_001278658.1:c.221A>T	NP_001265587.1:p.Gln74Leu
NM_001278659.1:c.59A>T	NP_001265588.1:p.Gln20Leu
XM_011513087.1:c.533A>T	XP_011511389.1:p.Gln178Leu
XM_011513088.1:c.359A>T	XP_011511390.1:p.Gln120Leu
XM_011513089.1:c.59A>T	XP_011511391.1:p.Gln20Leu
XM_011513087.2:c.533A>T	XP_011511389.1:p.Gln178Leu
XM_024453720.1:c.59A>T	XP_024309488.1:p.Gln20Leu
NM_000340.2:c.578A>T MANE Select	NP_000331.1:p.Gln193Leu
NM_001278658.2:c.221A>T	NP_001265587.1:p.Gln74Leu
NM_001278659.2:c.59A>T	NP_001265588.1:p.Gln20Leu