Canonical Allele Identifier: CA355485915

Gene: SLC2A2

Linked Data

• ClinVar Variation Id: 2812923
• ClinVar RCV Id: RCV003631668
• MyVariant Identifiers: chr3:g.170716106G>T (hg19) ; chr3:g.170998317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998317G>T , CM000665.2:g.170998317G>T	GRCh38
NC_000003.11:g.170716106G>T , CM000665.1:g.170716106G>T	GRCh37
NC_000003.10:g.172198800G>T	NCBI36
NG_008108.1:g.33663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.1250C>A MANE Select	ENSP00000323568.3:p.Pro417Gln
ENST00000314251.7:c.1250C>A	ENSP00000323568.3:p.Pro417Gln
ENST00000469787.1:c.*717C>A	ENSP00000417918.1:n.*717C>A
ENST00000497642.5:c.*717C>A	ENSP00000418456.1:n.*717C>A
NM_000340.1:c.1250C>A	NP_000331.1:p.Pro417Gln
NM_001278658.1:c.893C>A	NP_001265587.1:p.Pro298Gln
NM_001278659.1:c.731C>A	NP_001265588.1:p.Pro244Gln
XM_011513087.1:c.1205C>A	XP_011511389.1:p.Pro402Gln
XM_011513088.1:c.1031C>A	XP_011511390.1:p.Pro344Gln
XM_011513089.1:c.731C>A	XP_011511391.1:p.Pro244Gln
XM_011513087.2:c.1205C>A	XP_011511389.1:p.Pro402Gln
XM_024453720.1:c.731C>A	XP_024309488.1:p.Pro244Gln
NM_000340.2:c.1250C>A MANE Select	NP_000331.1:p.Pro417Gln
NM_001278658.2:c.893C>A	NP_001265587.1:p.Pro298Gln
NM_001278659.2:c.731C>A	NP_001265588.1:p.Pro244Gln