Canonical Allele Identifier: CA2702544
Community Standard Title: NM_000340.2(SLC2A2):c.963+1G>A
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171005284C>T , CM000665.2:g.171005284C>T GRCh38
NC_000003.11:g.170723073C>T , CM000665.1:g.170723073C>T GRCh37
NC_000003.10:g.172205767C>T NCBI36
NG_008108.1:g.26696G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.963+1G>A MANE Select NP_000331.1:n.963+1G>A
ENST00000314251.8:c.963+1G>A MANE Select ENSP00000323568.3:n.963+1G>A
NM_000340.1:c.963+1G>A NP_000331.1:n.963+1G>A
NM_001278658.1:c.606+1G>A NP_001265587.1:n.606+1G>A
NM_001278658.2:c.606+1G>A NP_001265587.1:n.606+1G>A
NM_001278659.1:c.444+1G>A NP_001265588.1:n.444+1G>A
NM_001278659.2:c.444+1G>A NP_001265588.1:n.444+1G>A
ENST00000314251.7:c.963+1G>A ENSP00000323568.3:n.963+1G>A
ENST00000469787.1:c.*430+1G>A ENSP00000417918.1:n.*430+1G>A
ENST00000497642.5:c.*430+1G>A ENSP00000418456.1:n.*430+1G>A
XM_011513087.1:c.918+1G>A XP_011511389.1:n.918+1G>A
XM_011513087.2:c.918+1G>A XP_011511389.1:n.918+1G>A
XM_011513088.1:c.744+1G>A XP_011511390.1:n.744+1G>A
XM_011513089.1:c.444+1G>A XP_011511391.1:n.444+1G>A
XM_024453720.1:c.444+1G>A XP_024309488.1:n.444+1G>A