Canonical Allele Identifier: CA2702692
Community Standard Title: NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.469G>C MANE Select NP_000331.1:p.Gly157Arg
ENST00000314251.8:c.469G>C MANE Select ENSP00000323568.3:p.Gly157Arg
NM_000340.1:c.469G>C NP_000331.1:p.Gly157Arg
NM_001278658.1:c.112G>C NP_001265587.1:p.Gly38Arg
NM_001278658.2:c.112G>C NP_001265587.1:p.Gly38Arg
NM_001278659.1:c.-23-2722G>C NP_001265588.1:n.-23-2722G>C
NM_001278659.2:c.-23-2722G>C NP_001265588.1:n.-23-2722G>C
ENST00000314251.7:c.469G>C ENSP00000323568.3:p.Gly157Arg
ENST00000461867.1:c.-23-2722G>C ENSP00000418888.1:n.-23-2722G>C
ENST00000469787.1:c.206G>C ENSP00000417918.1:p.Trp69Ser
ENST00000497642.5:c.372-2722G>C ENSP00000418456.1:n.372-2722G>C
XM_011513087.1:c.424G>C XP_011511389.1:p.Gly142Arg
XM_011513087.2:c.424G>C XP_011511389.1:p.Gly142Arg
XM_011513088.1:c.250G>C XP_011511390.1:p.Gly84Arg
XM_011513089.1:c.-23-2722G>C XP_011511391.1:n.-23-2722G>C
XM_024453720.1:c.-23-2722G>C XP_024309488.1:n.-23-2722G>C