Canonical Allele Identifier: CA355490450

Gene: SLC2A2

Linked Data

• gnomAD v4: 3-171007183-G-T
• MyVariant Identifiers: chr3:g.170724972G>T (hg19) ; chr3:g.171007183G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007183G>T , CM000665.2:g.171007183G>T	GRCh38
NC_000003.11:g.170724972G>T , CM000665.1:g.170724972G>T	GRCh37
NC_000003.10:g.172207666G>T	NCBI36
NG_008108.1:g.24797C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.577C>A MANE Select	ENSP00000323568.3:p.Gln193Lys
ENST00000314251.7:c.577C>A	ENSP00000323568.3:p.Gln193Lys
ENST00000461867.1:c.58C>A	ENSP00000418888.1:p.Gln20Lys
ENST00000469787.1:c.*44C>A	ENSP00000417918.1:n.*44C>A
ENST00000471379.1:n.288C>A
ENST00000497642.5:c.*44C>A	ENSP00000418456.1:n.*44C>A
NM_000340.1:c.577C>A	NP_000331.1:p.Gln193Lys
NM_001278658.1:c.220C>A	NP_001265587.1:p.Gln74Lys
NM_001278659.1:c.58C>A	NP_001265588.1:p.Gln20Lys
XM_011513087.1:c.532C>A	XP_011511389.1:p.Gln178Lys
XM_011513088.1:c.358C>A	XP_011511390.1:p.Gln120Lys
XM_011513089.1:c.58C>A	XP_011511391.1:p.Gln20Lys
XM_011513087.2:c.532C>A	XP_011511389.1:p.Gln178Lys
XM_024453720.1:c.58C>A	XP_024309488.1:p.Gln20Lys
NM_000340.2:c.577C>A MANE Select	NP_000331.1:p.Gln193Lys
NM_001278658.2:c.220C>A	NP_001265587.1:p.Gln74Lys
NM_001278659.2:c.58C>A	NP_001265588.1:p.Gln20Lys