Canonical Allele Identifier: CA436775535
Gene: SLC2A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.170724970C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171007181C>T , CM000665.2:g.171007181C>T GRCh38
NC_000003.11:g.170724970C>T , CM000665.1:g.170724970C>T GRCh37
NC_000003.10:g.172207664C>T NCBI36
NG_008108.1:g.24799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314251.8:c.579G>A MANE Select ENSP00000323568.3:p.Gln193=
ENST00000314251.7:c.579G>A ENSP00000323568.3:p.Gln193=
ENST00000461867.1:c.60G>A ENSP00000418888.1:p.Gln20=
ENST00000469787.1:c.*46G>A ENSP00000417918.1:n.*46G>A
ENST00000471379.1:n.290G>A
ENST00000497642.5:c.*46G>A ENSP00000418456.1:n.*46G>A
NM_000340.1:c.579G>A NP_000331.1:p.Gln193=
NM_001278658.1:c.222G>A NP_001265587.1:p.Gln74=
NM_001278659.1:c.60G>A NP_001265588.1:p.Gln20=
XM_011513087.1:c.534G>A XP_011511389.1:p.Gln178=
XM_011513088.1:c.360G>A XP_011511390.1:p.Gln120=
XM_011513089.1:c.60G>A XP_011511391.1:p.Gln20=
XM_011513087.2:c.534G>A XP_011511389.1:p.Gln178=
XM_024453720.1:c.60G>A XP_024309488.1:p.Gln20=
NM_000340.2:c.579G>A MANE Select NP_000331.1:p.Gln193=
NM_001278658.2:c.222G>A NP_001265587.1:p.Gln74=
NM_001278659.2:c.60G>A NP_001265588.1:p.Gln20=