Canonical Allele Identifier: CA436775531

Gene: SLC2A2

Linked Data

• MyVariant Identifiers: chr3:g.170724967C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007178C>A , CM000665.2:g.171007178C>A	GRCh38
NC_000003.11:g.170724967C>A , CM000665.1:g.170724967C>A	GRCh37
NC_000003.10:g.172207661C>A	NCBI36
NG_008108.1:g.24802G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.582G>T MANE Select	ENSP00000323568.3:p.Leu194=
ENST00000314251.7:c.582G>T	ENSP00000323568.3:p.Leu194=
ENST00000461867.1:c.63G>T	ENSP00000418888.1:p.Leu21=
ENST00000469787.1:c.*49G>T	ENSP00000417918.1:n.*49G>T
ENST00000471379.1:n.293G>T
ENST00000497642.5:c.*49G>T	ENSP00000418456.1:n.*49G>T
NM_000340.1:c.582G>T	NP_000331.1:p.Leu194=
NM_001278658.1:c.225G>T	NP_001265587.1:p.Leu75=
NM_001278659.1:c.63G>T	NP_001265588.1:p.Leu21=
XM_011513087.1:c.537G>T	XP_011511389.1:p.Leu179=
XM_011513088.1:c.363G>T	XP_011511390.1:p.Leu121=
XM_011513089.1:c.63G>T	XP_011511391.1:p.Leu21=
XM_011513087.2:c.537G>T	XP_011511389.1:p.Leu179=
XM_024453720.1:c.63G>T	XP_024309488.1:p.Leu21=
NM_000340.2:c.582G>T MANE Select	NP_000331.1:p.Leu194=
NM_001278658.2:c.225G>T	NP_001265587.1:p.Leu75=
NM_001278659.2:c.63G>T	NP_001265588.1:p.Leu21=