Canonical Allele Identifier: CA019983
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.170999142G>A , CM000665.2:g.170999142G>A GRCh38
NC_000003.11:g.170716931G>A , CM000665.1:g.170716931G>A GRCh37
NC_000003.10:g.172199625G>A NCBI36
NG_008108.1:g.32838C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.1093C>T MANE Select NP_000331.1:p.Arg365Ter
ENST00000314251.8:c.1093C>T MANE Select ENSP00000323568.3:p.Arg365Ter
NM_000340.1:c.1093C>T NP_000331.1:p.Arg365Ter
NM_001278658.1:c.736C>T NP_001265587.1:p.Arg246Ter
NM_001278658.2:c.736C>T NP_001265587.1:p.Arg246Ter
NM_001278659.1:c.574C>T NP_001265588.1:p.Arg192Ter
NM_001278659.2:c.574C>T NP_001265588.1:p.Arg192Ter
ENST00000314251.7:c.1093C>T ENSP00000323568.3:p.Arg365Ter
ENST00000469787.1:c.*560C>T ENSP00000417918.1:n.*560C>T
ENST00000497642.5:c.*560C>T ENSP00000418456.1:n.*560C>T
XM_011513087.1:c.1048C>T XP_011511389.1:p.Arg350Ter
XM_011513087.2:c.1048C>T XP_011511389.1:p.Arg350Ter
XM_011513088.1:c.874C>T XP_011511390.1:p.Arg292Ter
XM_011513089.1:c.574C>T XP_011511391.1:p.Arg192Ter
XM_024453720.1:c.574C>T XP_024309488.1:p.Arg192Ter