Canonical Allele Identifier: CA2702747

Gene: SLC2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171014682C>T , CM000665.2:g.171014682C>T	GRCh38
NC_000003.11:g.170732471C>T , CM000665.1:g.170732471C>T	GRCh37
NC_000003.10:g.172215165C>T	NCBI36
NG_008108.1:g.17298G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000340.2:c.158G>A MANE Select	NP_000331.1:p.Arg53Gln
ENST00000314251.8:c.158G>A MANE Select	ENSP00000323568.3:p.Arg53Gln
NM_000340.1:c.158G>A	NP_000331.1:p.Arg53Gln
NM_001278658.1:c.14+3849G>A	NP_001265587.1:n.14+3849G>A
NM_001278658.2:c.14+3849G>A	NP_001265587.1:n.14+3849G>A
NM_001278659.1:c.-237G>A	NP_001265588.1:n.-237G>A
NM_001278659.2:c.-237G>A	NP_001265588.1:n.-237G>A
ENST00000314251.7:c.158G>A	ENSP00000323568.3:p.Arg53Gln
ENST00000461867.1:c.-24+3849G>A	ENSP00000418888.1:n.-24+3849G>A
ENST00000469787.1:c.108+3849G>A	ENSP00000417918.1:n.108+3849G>A
ENST00000497642.5:c.158G>A	ENSP00000418456.1:p.Arg53Gln
XM_011513087.1:c.113G>A	XP_011511389.1:p.Arg38Gln
XM_011513087.2:c.113G>A	XP_011511389.1:p.Arg38Gln
XM_011513088.1:c.-62G>A	XP_011511390.1:n.-62G>A
XM_011513089.1:c.-24+3849G>A	XP_011511391.1:n.-24+3849G>A
XM_024453720.1:c.-24+3849G>A	XP_024309488.1:n.-24+3849G>A