Canonical Allele Identifier: CA2702732
Community Standard Title: NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171014593C>T , CM000665.2:g.171014593C>T GRCh38
NC_000003.11:g.170732382C>T , CM000665.1:g.170732382C>T GRCh37
NC_000003.10:g.172215076C>T NCBI36
NG_008108.1:g.17387G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.247G>A MANE Select NP_000331.1:p.Glu83Lys
ENST00000314251.8:c.247G>A MANE Select ENSP00000323568.3:p.Glu83Lys
NM_000340.1:c.247G>A NP_000331.1:p.Glu83Lys
NM_001278658.1:c.14+3938G>A NP_001265587.1:n.14+3938G>A
NM_001278658.2:c.14+3938G>A NP_001265587.1:n.14+3938G>A
NM_001278659.1:c.-148G>A NP_001265588.1:n.-148G>A
NM_001278659.2:c.-148G>A NP_001265588.1:n.-148G>A
ENST00000314251.7:c.247G>A ENSP00000323568.3:p.Glu83Lys
ENST00000461867.1:c.-24+3938G>A ENSP00000418888.1:n.-24+3938G>A
ENST00000469787.1:c.108+3938G>A ENSP00000417918.1:n.108+3938G>A
ENST00000497642.5:c.247G>A ENSP00000418456.1:p.Glu83Lys
XM_011513087.1:c.202G>A XP_011511389.1:p.Glu68Lys
XM_011513087.2:c.202G>A XP_011511389.1:p.Glu68Lys
XM_011513088.1:c.28G>A XP_011511390.1:p.Glu10Lys
XM_011513089.1:c.-24+3938G>A XP_011511391.1:n.-24+3938G>A
XM_024453720.1:c.-24+3938G>A XP_024309488.1:n.-24+3938G>A