Canonical Allele Identifier: CA2702548
Community Standard Title: NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171005296C>T , CM000665.2:g.171005296C>T GRCh38
NC_000003.11:g.170723085C>T , CM000665.1:g.170723085C>T GRCh37
NC_000003.10:g.172205779C>T NCBI36
NG_008108.1:g.26684G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.952G>A MANE Select NP_000331.1:p.Gly318Arg
ENST00000314251.8:c.952G>A MANE Select ENSP00000323568.3:p.Gly318Arg
NM_000340.1:c.952G>A NP_000331.1:p.Gly318Arg
NM_001278658.1:c.595G>A NP_001265587.1:p.Gly199Arg
NM_001278658.2:c.595G>A NP_001265587.1:p.Gly199Arg
NM_001278659.1:c.433G>A NP_001265588.1:p.Gly145Arg
NM_001278659.2:c.433G>A NP_001265588.1:p.Gly145Arg
ENST00000314251.7:c.952G>A ENSP00000323568.3:p.Gly318Arg
ENST00000469787.1:c.*419G>A ENSP00000417918.1:n.*419G>A
ENST00000497642.5:c.*419G>A ENSP00000418456.1:n.*419G>A
XM_011513087.1:c.907G>A XP_011511389.1:p.Gly303Arg
XM_011513087.2:c.907G>A XP_011511389.1:p.Gly303Arg
XM_011513088.1:c.733G>A XP_011511390.1:p.Gly245Arg
XM_011513089.1:c.433G>A XP_011511391.1:p.Gly145Arg
XM_024453720.1:c.433G>A XP_024309488.1:p.Gly145Arg