Canonical Allele Identifier: CA355485904

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170716100G>T (hg19) ; chr3:g.170998311G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998311G>T , CM000665.2:g.170998311G>T	GRCh38
NC_000003.11:g.170716100G>T , CM000665.1:g.170716100G>T	GRCh37
NC_000003.10:g.172198794G>T	NCBI36
NG_008108.1:g.33669C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.1256C>A MANE Select	ENSP00000323568.3:p.Pro419His
ENST00000314251.7:c.1256C>A	ENSP00000323568.3:p.Pro419His
ENST00000469787.1:c.*723C>A	ENSP00000417918.1:n.*723C>A
ENST00000497642.5:c.*723C>A	ENSP00000418456.1:n.*723C>A
NM_000340.1:c.1256C>A	NP_000331.1:p.Pro419His
NM_001278658.1:c.899C>A	NP_001265587.1:p.Pro300His
NM_001278659.1:c.737C>A	NP_001265588.1:p.Pro246His
XM_011513087.1:c.1211C>A	XP_011511389.1:p.Pro404His
XM_011513088.1:c.1037C>A	XP_011511390.1:p.Pro346His
XM_011513089.1:c.737C>A	XP_011511391.1:p.Pro246His
XM_011513087.2:c.1211C>A	XP_011511389.1:p.Pro404His
XM_024453720.1:c.737C>A	XP_024309488.1:p.Pro246His
NM_000340.2:c.1256C>A MANE Select	NP_000331.1:p.Pro419His
NM_001278658.2:c.899C>A	NP_001265587.1:p.Pro300His
NM_001278659.2:c.737C>A	NP_001265588.1:p.Pro246His