Canonical Allele Identifier: CA355492651
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171014511G>T , CM000665.2:g.171014511G>T GRCh38
NC_000003.11:g.170732300G>T , CM000665.1:g.170732300G>T GRCh37
NC_000003.10:g.172214994G>T NCBI36
NG_008108.1:g.17469C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.329C>A MANE Select NP_000331.1:p.Thr110Asn
ENST00000314251.8:c.329C>A MANE Select ENSP00000323568.3:p.Thr110Asn
NM_000340.1:c.329C>A NP_000331.1:p.Thr110Asn
NM_001278658.1:c.14+4020C>A NP_001265587.1:n.14+4020C>A
NM_001278658.2:c.14+4020C>A NP_001265587.1:n.14+4020C>A
NM_001278659.1:c.-66C>A NP_001265588.1:n.-66C>A
NM_001278659.2:c.-66C>A NP_001265588.1:n.-66C>A
ENST00000314251.7:c.329C>A ENSP00000323568.3:p.Thr110Asn
ENST00000461867.1:c.-24+4020C>A ENSP00000418888.1:n.-24+4020C>A
ENST00000469787.1:c.108+4020C>A ENSP00000417918.1:n.108+4020C>A
ENST00000497642.5:c.329C>A ENSP00000418456.1:p.Thr110Asn
XM_011513087.1:c.284C>A XP_011511389.1:p.Thr95Asn
XM_011513087.2:c.284C>A XP_011511389.1:p.Thr95Asn
XM_011513088.1:c.110C>A XP_011511390.1:p.Thr37Asn
XM_011513089.1:c.-24+4020C>A XP_011511391.1:n.-24+4020C>A
XM_024453720.1:c.-24+4020C>A XP_024309488.1:n.-24+4020C>A