Canonical Allele Identifier: CA355490433

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170724968A>T (hg19) ; chr3:g.171007179A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007179A>T , CM000665.2:g.171007179A>T	GRCh38
NC_000003.11:g.170724968A>T , CM000665.1:g.170724968A>T	GRCh37
NC_000003.10:g.172207662A>T	NCBI36
NG_008108.1:g.24801T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.581T>A MANE Select	ENSP00000323568.3:p.Leu194Gln
ENST00000314251.7:c.581T>A	ENSP00000323568.3:p.Leu194Gln
ENST00000461867.1:c.62T>A	ENSP00000418888.1:p.Leu21Gln
ENST00000469787.1:c.*48T>A	ENSP00000417918.1:n.*48T>A
ENST00000471379.1:n.292T>A
ENST00000497642.5:c.*48T>A	ENSP00000418456.1:n.*48T>A
NM_000340.1:c.581T>A	NP_000331.1:p.Leu194Gln
NM_001278658.1:c.224T>A	NP_001265587.1:p.Leu75Gln
NM_001278659.1:c.62T>A	NP_001265588.1:p.Leu21Gln
XM_011513087.1:c.536T>A	XP_011511389.1:p.Leu179Gln
XM_011513088.1:c.362T>A	XP_011511390.1:p.Leu121Gln
XM_011513089.1:c.62T>A	XP_011511391.1:p.Leu21Gln
XM_011513087.2:c.536T>A	XP_011511389.1:p.Leu179Gln
XM_024453720.1:c.62T>A	XP_024309488.1:p.Leu21Gln
NM_000340.2:c.581T>A MANE Select	NP_000331.1:p.Leu194Gln
NM_001278658.2:c.224T>A	NP_001265587.1:p.Leu75Gln
NM_001278659.2:c.62T>A	NP_001265588.1:p.Leu21Gln