Canonical Allele Identifier: CA2702713

Gene: SLC2A2

Linked Data

• dbSNP Id: rs766531758
• ExAC: 3:170732208 A / T
• gnomAD v2: 3-170732208-A-T
• gnomAD v4: 3-171014419-A-T
• MyVariant Identifiers: chr3:g.170732208A>T (hg19) ; chr3:g.171014419A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171014419A>T , CM000665.2:g.171014419A>T	GRCh38
NC_000003.11:g.170732208A>T , CM000665.1:g.170732208A>T	GRCh37
NC_000003.10:g.172214902A>T	NCBI36
NG_008108.1:g.17561T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.371+50T>A MANE Select	ENSP00000323568.3:n.371+50T>A
ENST00000314251.7:c.371+50T>A	ENSP00000323568.3:n.371+50T>A
ENST00000461867.1:c.-24+4112T>A	ENSP00000418888.1:n.-24+4112T>A
ENST00000469787.1:c.108+4112T>A	ENSP00000417918.1:n.108+4112T>A
ENST00000497642.5:c.371+50T>A	ENSP00000418456.1:n.371+50T>A
NM_000340.1:c.371+50T>A	NP_000331.1:n.371+50T>A
NM_001278658.1:c.14+4112T>A	NP_001265587.1:n.14+4112T>A
NM_001278659.1:c.-24+50T>A	NP_001265588.1:n.-24+50T>A
XM_011513087.1:c.326+50T>A	XP_011511389.1:n.326+50T>A
XM_011513088.1:c.152+50T>A	XP_011511390.1:n.152+50T>A
XM_011513089.1:c.-24+4112T>A	XP_011511391.1:n.-24+4112T>A
XM_011513087.2:c.326+50T>A	XP_011511389.1:n.326+50T>A
XM_024453720.1:c.-24+4112T>A	XP_024309488.1:n.-24+4112T>A
NM_000340.2:c.371+50T>A MANE Select	NP_000331.1:n.371+50T>A
NM_001278658.2:c.14+4112T>A	NP_001265587.1:n.14+4112T>A
NM_001278659.2:c.-24+50T>A	NP_001265588.1:n.-24+50T>A