Canonical Allele Identifier: CA355485680

Gene: SLC2A2

Linked Data

• dbSNP Id: rs1418589512
• gnomAD v3: 3-170998210-A-G
• gnomAD v4: 3-170998210-A-G
• MyVariant Identifiers: chr3:g.170715999A>G (hg19) ; chr3:g.170998210A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170998210A>G , CM000665.2:g.170998210A>G	GRCh38
NC_000003.11:g.170715999A>G , CM000665.1:g.170715999A>G	GRCh37
NC_000003.10:g.172198693A>G	NCBI36
NG_008108.1:g.33770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.1357T>C MANE Select	ENSP00000323568.3:p.Cys453Arg
ENST00000314251.7:c.1357T>C	ENSP00000323568.3:p.Cys453Arg
ENST00000469787.1:c.*824T>C	ENSP00000417918.1:n.*824T>C
ENST00000497642.5:c.*824T>C	ENSP00000418456.1:n.*824T>C
NM_000340.1:c.1357T>C	NP_000331.1:p.Cys453Arg
NM_001278658.1:c.1000T>C	NP_001265587.1:p.Cys334Arg
NM_001278659.1:c.838T>C	NP_001265588.1:p.Cys280Arg
XM_011513087.1:c.1312T>C	XP_011511389.1:p.Cys438Arg
XM_011513088.1:c.1138T>C	XP_011511390.1:p.Cys380Arg
XM_011513089.1:c.838T>C	XP_011511391.1:p.Cys280Arg
XM_011513087.2:c.1312T>C	XP_011511389.1:p.Cys438Arg
XM_024453720.1:c.838T>C	XP_024309488.1:p.Cys280Arg
NM_000340.2:c.1357T>C MANE Select	NP_000331.1:p.Cys453Arg
NM_001278658.2:c.1000T>C	NP_001265587.1:p.Cys334Arg
NM_001278659.2:c.838T>C	NP_001265588.1:p.Cys280Arg