Canonical Allele Identifier: CA355485660

Gene: SLC2A2

Linked Data

• gnomAD v4: 3-170998203-T-C
• MyVariant Identifiers: chr3:g.170715992T>C (hg19) ; chr3:g.170998203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998203T>C , CM000665.2:g.170998203T>C	GRCh38
NC_000003.11:g.170715992T>C , CM000665.1:g.170715992T>C	GRCh37
NC_000003.10:g.172198686T>C	NCBI36
NG_008108.1:g.33777A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.1364A>G MANE Select	ENSP00000323568.3:p.Gln455Arg
ENST00000314251.7:c.1364A>G	ENSP00000323568.3:p.Gln455Arg
ENST00000469787.1:c.*831A>G	ENSP00000417918.1:n.*831A>G
ENST00000497642.5:c.*831A>G	ENSP00000418456.1:n.*831A>G
NM_000340.1:c.1364A>G	NP_000331.1:p.Gln455Arg
NM_001278658.1:c.1007A>G	NP_001265587.1:p.Gln336Arg
NM_001278659.1:c.845A>G	NP_001265588.1:p.Gln282Arg
XM_011513087.1:c.1319A>G	XP_011511389.1:p.Gln440Arg
XM_011513088.1:c.1145A>G	XP_011511390.1:p.Gln382Arg
XM_011513089.1:c.845A>G	XP_011511391.1:p.Gln282Arg
XM_011513087.2:c.1319A>G	XP_011511389.1:p.Gln440Arg
XM_024453720.1:c.845A>G	XP_024309488.1:p.Gln282Arg
NM_000340.2:c.1364A>G MANE Select	NP_000331.1:p.Gln455Arg
NM_001278658.2:c.1007A>G	NP_001265587.1:p.Gln336Arg
NM_001278659.2:c.845A>G	NP_001265588.1:p.Gln282Arg