Canonical Allele Identifier: CA355489740
Community Standard Title: NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171006093C>A , CM000665.2:g.171006093C>A GRCh38
NC_000003.11:g.170723882C>A , CM000665.1:g.170723882C>A GRCh37
NC_000003.10:g.172206576C>A NCBI36
NG_008108.1:g.25887G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.625G>T MANE Select NP_000331.1:p.Glu209Ter
ENST00000314251.8:c.625G>T MANE Select ENSP00000323568.3:p.Glu209Ter
NM_000340.1:c.625G>T NP_000331.1:p.Glu209Ter
NM_001278658.1:c.268G>T NP_001265587.1:p.Glu90Ter
NM_001278658.2:c.268G>T NP_001265587.1:p.Glu90Ter
NM_001278659.1:c.106G>T NP_001265588.1:p.Glu36Ter
NM_001278659.2:c.106G>T NP_001265588.1:p.Glu36Ter
ENST00000314251.7:c.625G>T ENSP00000323568.3:p.Glu209Ter
ENST00000461867.1:c.106G>T ENSP00000418888.1:p.Glu36Ter
ENST00000469787.1:c.*92G>T ENSP00000417918.1:n.*92G>T
ENST00000471379.1:n.324-621G>T
ENST00000497642.5:c.*92G>T ENSP00000418456.1:n.*92G>T
XM_011513087.1:c.580G>T XP_011511389.1:p.Glu194Ter
XM_011513087.2:c.580G>T XP_011511389.1:p.Glu194Ter
XM_011513088.1:c.406G>T XP_011511390.1:p.Glu136Ter
XM_011513089.1:c.106G>T XP_011511391.1:p.Glu36Ter
XM_024453720.1:c.106G>T XP_024309488.1:p.Glu36Ter