Canonical Allele Identifier: CA2702478

Gene: SLC2A2

Linked Data

• dbSNP Id: rs121909747
• ExAC: 3:170716858 A / C
• gnomAD v2: 3-170716858-A-C
• gnomAD v4: 3-170999069-A-C
• MyVariant Identifiers: chr3:g.170716858A>C (hg19) ; chr3:g.170999069A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170999069A>C , CM000665.2:g.170999069A>C	GRCh38
NC_000003.11:g.170716858A>C , CM000665.1:g.170716858A>C	GRCh37
NC_000003.10:g.172199552A>C	NCBI36
NG_008108.1:g.32911T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000314251.8:c.1166T>G MANE Select	ENSP00000323568.3:p.Leu389Arg
ENST00000314251.7:c.1166T>G	ENSP00000323568.3:p.Leu389Arg
ENST00000469787.1:c.*633T>G	ENSP00000417918.1:n.*633T>G
ENST00000497642.5:c.*633T>G	ENSP00000418456.1:n.*633T>G
NM_000340.1:c.1166T>G	NP_000331.1:p.Leu389Arg
NM_001278658.1:c.809T>G	NP_001265587.1:p.Leu270Arg
NM_001278659.1:c.647T>G	NP_001265588.1:p.Leu216Arg
XM_011513087.1:c.1121T>G	XP_011511389.1:p.Leu374Arg
XM_011513088.1:c.947T>G	XP_011511390.1:p.Leu316Arg
XM_011513089.1:c.647T>G	XP_011511391.1:p.Leu216Arg
XM_011513087.2:c.1121T>G	XP_011511389.1:p.Leu374Arg
XM_024453720.1:c.647T>G	XP_024309488.1:p.Leu216Arg
NM_000340.2:c.1166T>G MANE Select	NP_000331.1:p.Leu389Arg
NM_001278658.2:c.809T>G	NP_001265587.1:p.Leu270Arg
NM_001278659.2:c.647T>G	NP_001265588.1:p.Leu216Arg