Canonical Allele Identifier: CA2702608

Gene: SLC2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171006057G>A , CM000665.2:g.171006057G>A	GRCh38
NC_000003.11:g.170723846G>A , CM000665.1:g.170723846G>A	GRCh37
NC_000003.10:g.172206540G>A	NCBI36
NG_008108.1:g.25923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.661C>T MANE Select	ENSP00000323568.3:p.Leu221=
ENST00000314251.7:c.661C>T	ENSP00000323568.3:p.Leu221=
ENST00000461867.1:c.142C>T	ENSP00000418888.1:p.Leu48=
ENST00000469787.1:c.*128C>T	ENSP00000417918.1:n.*128C>T
ENST00000471379.1:n.324-585C>T
ENST00000497642.5:c.*128C>T	ENSP00000418456.1:n.*128C>T
NM_000340.1:c.661C>T	NP_000331.1:p.Leu221=
NM_001278658.1:c.304C>T	NP_001265587.1:p.Leu102=
NM_001278659.1:c.142C>T	NP_001265588.1:p.Leu48=
XM_011513087.1:c.616C>T	XP_011511389.1:p.Leu206=
XM_011513088.1:c.442C>T	XP_011511390.1:p.Leu148=
XM_011513089.1:c.142C>T	XP_011511391.1:p.Leu48=
XM_011513087.2:c.616C>T	XP_011511389.1:p.Leu206=
XM_024453720.1:c.142C>T	XP_024309488.1:p.Leu48=
NM_000340.2:c.661C>T MANE Select	NP_000331.1:p.Leu221=
NM_001278658.2:c.304C>T	NP_001265587.1:p.Leu102=
NM_001278659.2:c.142C>T	NP_001265588.1:p.Leu48=