Canonical Allele Identifier: CA020030

Gene: SLC2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171005389G>A , CM000665.2:g.171005389G>A	GRCh38
NC_000003.11:g.170723178G>A , CM000665.1:g.170723178G>A	GRCh37
NC_000003.10:g.172205872G>A	NCBI36
NG_008108.1:g.26591C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000340.2:c.859C>T MANE Select	NP_000331.1:p.Gln287Ter
ENST00000314251.8:c.859C>T MANE Select	ENSP00000323568.3:p.Gln287Ter
NM_000340.1:c.859C>T	NP_000331.1:p.Gln287Ter
NM_001278658.1:c.502C>T	NP_001265587.1:p.Gln168Ter
NM_001278658.2:c.502C>T	NP_001265587.1:p.Gln168Ter
NM_001278659.1:c.340C>T	NP_001265588.1:p.Gln114Ter
NM_001278659.2:c.340C>T	NP_001265588.1:p.Gln114Ter
ENST00000314251.7:c.859C>T	ENSP00000323568.3:p.Gln287Ter
ENST00000469787.1:c.*326C>T	ENSP00000417918.1:n.*326C>T
ENST00000497642.5:c.*326C>T	ENSP00000418456.1:n.*326C>T
XM_011513087.1:c.814C>T	XP_011511389.1:p.Gln272Ter
XM_011513087.2:c.814C>T	XP_011511389.1:p.Gln272Ter
XM_011513088.1:c.640C>T	XP_011511390.1:p.Gln214Ter
XM_011513089.1:c.340C>T	XP_011511391.1:p.Gln114Ter
XM_024453720.1:c.340C>T	XP_024309488.1:p.Gln114Ter