Canonical Allele Identifier: CA2702603
Community Standard Title: NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171006036G>A , CM000665.2:g.171006036G>A GRCh38
NC_000003.11:g.170723825G>A , CM000665.1:g.170723825G>A GRCh37
NC_000003.10:g.172206519G>A NCBI36
NG_008108.1:g.25944C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.682C>T MANE Select NP_000331.1:p.Arg228Ter
ENST00000314251.8:c.682C>T MANE Select ENSP00000323568.3:p.Arg228Ter
NM_000340.1:c.682C>T NP_000331.1:p.Arg228Ter
NM_001278658.1:c.325C>T NP_001265587.1:p.Arg109Ter
NM_001278658.2:c.325C>T NP_001265587.1:p.Arg109Ter
NM_001278659.1:c.163C>T NP_001265588.1:p.Arg55Ter
NM_001278659.2:c.163C>T NP_001265588.1:p.Arg55Ter
ENST00000314251.7:c.682C>T ENSP00000323568.3:p.Arg228Ter
ENST00000461867.1:c.163C>T ENSP00000418888.1:p.Arg55Ter
ENST00000469787.1:c.*149C>T ENSP00000417918.1:n.*149C>T
ENST00000471379.1:n.324-564C>T
ENST00000497642.5:c.*149C>T ENSP00000418456.1:n.*149C>T
XM_011513087.1:c.637C>T XP_011511389.1:p.Arg213Ter
XM_011513087.2:c.637C>T XP_011511389.1:p.Arg213Ter
XM_011513088.1:c.463C>T XP_011511390.1:p.Arg155Ter
XM_011513089.1:c.163C>T XP_011511391.1:p.Arg55Ter
XM_024453720.1:c.163C>T XP_024309488.1:p.Arg55Ter