Canonical Allele Identifier: CA355489802
Community Standard Title: NM_000340.2(SLC2A2):c.613-1G>C
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171006106C>G , CM000665.2:g.171006106C>G GRCh38
NC_000003.11:g.170723895C>G , CM000665.1:g.170723895C>G GRCh37
NC_000003.10:g.172206589C>G NCBI36
NG_008108.1:g.25874G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.613-1G>C MANE Select NP_000331.1:n.613-1G>C
ENST00000314251.8:c.613-1G>C MANE Select ENSP00000323568.3:n.613-1G>C
NM_000340.1:c.613-1G>C NP_000331.1:n.613-1G>C
NM_001278658.1:c.256-1G>C NP_001265587.1:n.256-1G>C
NM_001278658.2:c.256-1G>C NP_001265587.1:n.256-1G>C
NM_001278659.1:c.94-1G>C NP_001265588.1:n.94-1G>C
NM_001278659.2:c.94-1G>C NP_001265588.1:n.94-1G>C
ENST00000314251.7:c.613-1G>C ENSP00000323568.3:n.613-1G>C
ENST00000461867.1:c.94-1G>C ENSP00000418888.1:n.94-1G>C
ENST00000469787.1:c.*80-1G>C ENSP00000417918.1:n.*80-1G>C
ENST00000471379.1:n.324-634G>C
ENST00000497642.5:c.*80-1G>C ENSP00000418456.1:n.*80-1G>C
XM_011513087.1:c.568-1G>C XP_011511389.1:n.568-1G>C
XM_011513087.2:c.568-1G>C XP_011511389.1:n.568-1G>C
XM_011513088.1:c.394-1G>C XP_011511390.1:n.394-1G>C
XM_011513089.1:c.94-1G>C XP_011511391.1:n.94-1G>C
XM_024453720.1:c.94-1G>C XP_024309488.1:n.94-1G>C