Canonical Allele Identifier: CA2702638

Gene: SLC2A2

Linked Data

• ClinVar Variation Id: 344167
• ClinVar RCV Id: RCV000353212
• dbSNP Id: rs779065938
• ExAC: 3:170724969 G / C
• gnomAD v2: 3-170724969-G-C
• gnomAD v4: 3-171007180-G-C
• MyVariant Identifiers: chr3:g.170724969G>C (hg19) ; chr3:g.171007180G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.171007180G>C , CM000665.2:g.171007180G>C	GRCh38
NC_000003.11:g.170724969G>C , CM000665.1:g.170724969G>C	GRCh37
NC_000003.10:g.172207663G>C	NCBI36
NG_008108.1:g.24800C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314251.8:c.580C>G MANE Select	ENSP00000323568.3:p.Leu194Val
ENST00000314251.7:c.580C>G	ENSP00000323568.3:p.Leu194Val
ENST00000461867.1:c.61C>G	ENSP00000418888.1:p.Leu21Val
ENST00000469787.1:c.*47C>G	ENSP00000417918.1:n.*47C>G
ENST00000471379.1:n.291C>G
ENST00000497642.5:c.*47C>G	ENSP00000418456.1:n.*47C>G
NM_000340.1:c.580C>G	NP_000331.1:p.Leu194Val
NM_001278658.1:c.223C>G	NP_001265587.1:p.Leu75Val
NM_001278659.1:c.61C>G	NP_001265588.1:p.Leu21Val
XM_011513087.1:c.535C>G	XP_011511389.1:p.Leu179Val
XM_011513088.1:c.361C>G	XP_011511390.1:p.Leu121Val
XM_011513089.1:c.61C>G	XP_011511391.1:p.Leu21Val
XM_011513087.2:c.535C>G	XP_011511389.1:p.Leu179Val
XM_024453720.1:c.61C>G	XP_024309488.1:p.Leu21Val
NM_000340.2:c.580C>G MANE Select	NP_000331.1:p.Leu194Val
NM_001278658.2:c.223C>G	NP_001265587.1:p.Leu75Val
NM_001278659.2:c.61C>G	NP_001265588.1:p.Leu21Val