Canonical Allele Identifier: CA902467329
Community Standard Title: NM_000340.2(SLC2A2):c.*83A>T
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.170997820T>A , CM000665.2:g.170997820T>A GRCh38
NC_000003.11:g.170715609T>A , CM000665.1:g.170715609T>A GRCh37
NC_000003.10:g.172198303T>A NCBI36
NG_008108.1:g.34160A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.*83A>T MANE Select NP_000331.1:n.*83A>T
ENST00000314251.8:c.*83A>T MANE Select ENSP00000323568.3:n.*83A>T
NM_000340.1:c.*83A>T NP_000331.1:n.*83A>T
NM_001278658.1:c.*83A>T NP_001265587.1:n.*83A>T
NM_001278658.2:c.*83A>T NP_001265587.1:n.*83A>T
NM_001278659.1:c.*83A>T NP_001265588.1:n.*83A>T
NM_001278659.2:c.*83A>T NP_001265588.1:n.*83A>T
ENST00000314251.7:c.*83A>T ENSP00000323568.3:n.*83A>T
ENST00000469787.1:c.*1125A>T ENSP00000417918.1:n.*1125A>T
ENST00000497642.5:c.*1125A>T ENSP00000418456.1:n.*1125A>T
XM_011513087.1:c.*83A>T XP_011511389.1:n.*83A>T
XM_011513087.2:c.*83A>T XP_011511389.1:n.*83A>T
XM_011513088.1:c.*83A>T XP_011511390.1:n.*83A>T
XM_011513089.1:c.*83A>T XP_011511391.1:n.*83A>T
XM_024453720.1:c.*83A>T XP_024309488.1:n.*83A>T