Canonical Allele Identifier: CA019978

Gene: SLC2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170999148C>A , CM000665.2:g.170999148C>A	GRCh38
NC_000003.11:g.170716937C>A , CM000665.1:g.170716937C>A	GRCh37
NC_000003.10:g.172199631C>A	NCBI36
NG_008108.1:g.32832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.1087G>T MANE Select	ENSP00000323568.3:p.Ala363Ser
ENST00000314251.7:c.1087G>T	ENSP00000323568.3:p.Ala363Ser
ENST00000469787.1:c.*554G>T	ENSP00000417918.1:n.*554G>T
ENST00000497642.5:c.*554G>T	ENSP00000418456.1:n.*554G>T
NM_000340.1:c.1087G>T	NP_000331.1:p.Ala363Ser
NM_001278658.1:c.730G>T	NP_001265587.1:p.Ala244Ser
NM_001278659.1:c.568G>T	NP_001265588.1:p.Ala190Ser
XM_011513087.1:c.1042G>T	XP_011511389.1:p.Ala348Ser
XM_011513088.1:c.868G>T	XP_011511390.1:p.Ala290Ser
XM_011513089.1:c.568G>T	XP_011511391.1:p.Ala190Ser
XM_011513087.2:c.1042G>T	XP_011511389.1:p.Ala348Ser
XM_024453720.1:c.568G>T	XP_024309488.1:p.Ala190Ser
NM_000340.2:c.1087G>T MANE Select	NP_000331.1:p.Ala363Ser
NM_001278658.2:c.730G>T	NP_001265587.1:p.Ala244Ser
NM_001278659.2:c.568G>T	NP_001265588.1:p.Ala190Ser