Canonical Allele Identifier: CA355485675

Gene: SLC2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998208A>T , CM000665.2:g.170998208A>T	GRCh38
NC_000003.11:g.170715997A>T , CM000665.1:g.170715997A>T	GRCh37
NC_000003.10:g.172198691A>T	NCBI36
NG_008108.1:g.33772T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000340.2:c.1359T>A MANE Select	NP_000331.1:p.Cys453Ter
ENST00000314251.8:c.1359T>A MANE Select	ENSP00000323568.3:p.Cys453Ter
NM_000340.1:c.1359T>A	NP_000331.1:p.Cys453Ter
NM_001278658.1:c.1002T>A	NP_001265587.1:p.Cys334Ter
NM_001278658.2:c.1002T>A	NP_001265587.1:p.Cys334Ter
NM_001278659.1:c.840T>A	NP_001265588.1:p.Cys280Ter
NM_001278659.2:c.840T>A	NP_001265588.1:p.Cys280Ter
ENST00000314251.7:c.1359T>A	ENSP00000323568.3:p.Cys453Ter
ENST00000469787.1:c.*826T>A	ENSP00000417918.1:n.*826T>A
ENST00000497642.5:c.*826T>A	ENSP00000418456.1:n.*826T>A
XM_011513087.1:c.1314T>A	XP_011511389.1:p.Cys438Ter
XM_011513087.2:c.1314T>A	XP_011511389.1:p.Cys438Ter
XM_011513088.1:c.1140T>A	XP_011511390.1:p.Cys380Ter
XM_011513089.1:c.840T>A	XP_011511391.1:p.Cys280Ter
XM_024453720.1:c.840T>A	XP_024309488.1:p.Cys280Ter