Canonical Allele Identifier: CA355491592
Community Standard Title: NM_000340.2(SLC2A2):c.469G>A (p.Gly157Arg)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171009985C>T , CM000665.2:g.171009985C>T GRCh38
NC_000003.11:g.170727774C>T , CM000665.1:g.170727774C>T GRCh37
NC_000003.10:g.172210468C>T NCBI36
NG_008108.1:g.21995G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.469G>A MANE Select NP_000331.1:p.Gly157Arg
ENST00000314251.8:c.469G>A MANE Select ENSP00000323568.3:p.Gly157Arg
NM_000340.1:c.469G>A NP_000331.1:p.Gly157Arg
NM_001278658.1:c.112G>A NP_001265587.1:p.Gly38Arg
NM_001278658.2:c.112G>A NP_001265587.1:p.Gly38Arg
NM_001278659.1:c.-23-2722G>A NP_001265588.1:n.-23-2722G>A
NM_001278659.2:c.-23-2722G>A NP_001265588.1:n.-23-2722G>A
ENST00000314251.7:c.469G>A ENSP00000323568.3:p.Gly157Arg
ENST00000461867.1:c.-23-2722G>A ENSP00000418888.1:n.-23-2722G>A
ENST00000469787.1:c.206G>A ENSP00000417918.1:p.Trp69Ter
ENST00000497642.5:c.372-2722G>A ENSP00000418456.1:n.372-2722G>A
XM_011513087.1:c.424G>A XP_011511389.1:p.Gly142Arg
XM_011513087.2:c.424G>A XP_011511389.1:p.Gly142Arg
XM_011513088.1:c.250G>A XP_011511390.1:p.Gly84Arg
XM_011513089.1:c.-23-2722G>A XP_011511391.1:n.-23-2722G>A
XM_024453720.1:c.-23-2722G>A XP_024309488.1:n.-23-2722G>A