Canonical Allele Identifier: CA355494055
Community Standard Title: NM_000340.2(SLC2A2):c.109-2A>G
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171014733T>C , CM000665.2:g.171014733T>C GRCh38
NC_000003.11:g.170732522T>C , CM000665.1:g.170732522T>C GRCh37
NC_000003.10:g.172215216T>C NCBI36
NG_008108.1:g.17247A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.109-2A>G MANE Select NP_000331.1:n.109-2A>G
ENST00000314251.8:c.109-2A>G MANE Select ENSP00000323568.3:n.109-2A>G
NM_000340.1:c.109-2A>G NP_000331.1:n.109-2A>G
NM_001278658.1:c.14+3798A>G NP_001265587.1:n.14+3798A>G
NM_001278658.2:c.14+3798A>G NP_001265587.1:n.14+3798A>G
NM_001278659.1:c.-286-2A>G NP_001265588.1:n.-286-2A>G
NM_001278659.2:c.-286-2A>G NP_001265588.1:n.-286-2A>G
ENST00000314251.7:c.109-2A>G ENSP00000323568.3:n.109-2A>G
ENST00000461867.1:c.-24+3798A>G ENSP00000418888.1:n.-24+3798A>G
ENST00000469787.1:c.108+3798A>G ENSP00000417918.1:n.108+3798A>G
ENST00000497642.5:c.109-2A>G ENSP00000418456.1:n.109-2A>G
XM_011513087.1:c.64-2A>G XP_011511389.1:n.64-2A>G
XM_011513087.2:c.64-2A>G XP_011511389.1:n.64-2A>G
XM_011513088.1:c.-111-2A>G XP_011511390.1:n.-111-2A>G
XM_011513089.1:c.-24+3798A>G XP_011511391.1:n.-24+3798A>G
XM_024453720.1:c.-24+3798A>G XP_024309488.1:n.-24+3798A>G