Canonical Allele Identifier: CA2582341915

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2582491
• ClinVar RCV Id: RCV003333478

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929870T>C , CM000663.2:g.42929870T>C	GRCh38
NC_000001.10:g.43395541T>C , CM000663.1:g.43395541T>C	GRCh37
NC_000001.9:g.43168128T>C	NCBI36
NG_008232.1:g.34307A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.679+3A>G MANE Select	ENSP00000416293.2:n.679+3A>G
ENST00000669445.1:c.56+3A>G
ENST00000674765.1:c.679+3A>G	ENSP00000501811.1:n.679+3A>G
ENST00000675112.1:n.702+3A>G
ENST00000676254.1:n.1128+3A>G
ENST00000426263.7:c.679+3A>G	ENSP00000416293.2:n.679+3A>G
ENST00000439722.2:c.558+3A>G	ENSP00000395521.2:n.558+3A>G
ENST00000475162.3:c.415+756A>G
ENST00000630287.2:c.517-90A>G	ENSP00000486694.1:n.517-90A>G
NM_006516.2:c.679+3A>G	NP_006507.2:n.679+3A>G
NM_006516.3:c.679+3A>G	NP_006507.2:n.679+3A>G
NM_006516.4:c.679+3A>G MANE Select	NP_006507.2:n.679+3A>G