Canonical Allele Identifier: CA2702399

Gene: SLC2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998046G>C , CM000665.2:g.170998046G>C	GRCh38
NC_000003.11:g.170715835G>C , CM000665.1:g.170715835G>C	GRCh37
NC_000003.10:g.172198529G>C	NCBI36
NG_008108.1:g.33934C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000340.2:c.1432C>G MANE Select	NP_000331.1:p.Leu478Val
ENST00000314251.8:c.1432C>G MANE Select	ENSP00000323568.3:p.Leu478Val
NM_000340.1:c.1432C>G	NP_000331.1:p.Leu478Val
NM_001278658.1:c.1075C>G	NP_001265587.1:p.Leu359Val
NM_001278658.2:c.1075C>G	NP_001265587.1:p.Leu359Val
NM_001278659.1:c.913C>G	NP_001265588.1:p.Leu305Val
NM_001278659.2:c.913C>G	NP_001265588.1:p.Leu305Val
ENST00000314251.7:c.1432C>G	ENSP00000323568.3:p.Leu478Val
ENST00000469787.1:c.*899C>G	ENSP00000417918.1:n.*899C>G
ENST00000497642.5:c.*899C>G	ENSP00000418456.1:n.*899C>G
XM_011513087.1:c.1387C>G	XP_011511389.1:p.Leu463Val
XM_011513087.2:c.1387C>G	XP_011511389.1:p.Leu463Val
XM_011513088.1:c.1213C>G	XP_011511390.1:p.Leu405Val
XM_011513089.1:c.913C>G	XP_011511391.1:p.Leu305Val
XM_024453720.1:c.913C>G	XP_024309488.1:p.Leu305Val