Canonical Allele Identifier: CA87712909
Community Standard Title: NM_000340.2(SLC2A2):c.372-4T>C
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171010086A>G , CM000665.2:g.171010086A>G GRCh38
NC_000003.11:g.170727875A>G , CM000665.1:g.170727875A>G GRCh37
NC_000003.10:g.172210569A>G NCBI36
NG_008108.1:g.21894T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.372-4T>C MANE Select NP_000331.1:n.372-4T>C
ENST00000314251.8:c.372-4T>C MANE Select ENSP00000323568.3:n.372-4T>C
NM_000340.1:c.372-4T>C NP_000331.1:n.372-4T>C
NM_001278658.1:c.15-4T>C NP_001265587.1:n.15-4T>C
NM_001278658.2:c.15-4T>C NP_001265587.1:n.15-4T>C
NM_001278659.1:c.-23-2823T>C NP_001265588.1:n.-23-2823T>C
NM_001278659.2:c.-23-2823T>C NP_001265588.1:n.-23-2823T>C
ENST00000314251.7:c.372-4T>C ENSP00000323568.3:n.372-4T>C
ENST00000461867.1:c.-23-2823T>C ENSP00000418888.1:n.-23-2823T>C
ENST00000469787.1:c.109-4T>C ENSP00000417918.1:n.109-4T>C
ENST00000497642.5:c.372-2823T>C ENSP00000418456.1:n.372-2823T>C
XM_011513087.1:c.327-4T>C XP_011511389.1:n.327-4T>C
XM_011513087.2:c.327-4T>C XP_011511389.1:n.327-4T>C
XM_011513088.1:c.153-4T>C XP_011511390.1:n.153-4T>C
XM_011513089.1:c.-23-2823T>C XP_011511391.1:n.-23-2823T>C
XM_024453720.1:c.-23-2823T>C XP_024309488.1:n.-23-2823T>C