Canonical Allele Identifier: CA2857155

Gene: SLC2A9

Linked Data

• ClinVar Variation Id: 350234
• ClinVar RCV Id: RCV000405411 ; RCV002523495
• dbSNP Id: rs139449249
• ExAC: 4:9982231 G / A
• gnomAD v2: 4-9982231-G-A
• gnomAD v3: 4-9980607-G-A
• gnomAD v4: 4-9980607-G-A
• MyVariant Identifiers: chr4:g.9982231G>A (hg19) ; chr4:g.9980607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.9980607G>A , CM000666.2:g.9980607G>A	GRCh38
NC_000004.11:g.9982231G>A , CM000666.1:g.9982231G>A	GRCh37
NC_000004.10:g.9591329G>A	NCBI36
NG_011540.1:g.64642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264784.8:c.666C>T MANE Select	ENSP00000264784.3:p.Pro222=
ENST00000264784.7:c.666C>T	ENSP00000264784.3:p.Pro222=
ENST00000309065.7:c.579C>T	ENSP00000311383.3:p.Pro193=
ENST00000505104.5:n.700C>T
ENST00000506583.5:c.579C>T	ENSP00000422209.1:p.Pro193=
ENST00000513129.1:c.579C>T	ENSP00000426800.1:p.Pro193=
NM_001001290.1:c.579C>T	NP_001001290.1:p.Pro193=
NM_020041.2:c.666C>T	NP_064425.2:p.Pro222=
XM_006713968.2:c.666C>T	XP_006714031.1:p.Pro222=
XM_006713969.2:c.579C>T	XP_006714032.1:p.Pro193=
XM_011513856.1:c.666C>T	XP_011512158.1:p.Pro222=
XM_011513857.1:c.579C>T	XP_011512159.1:p.Pro193=
XM_011513858.1:c.579C>T	XP_011512160.1:p.Pro193=
XM_011513859.1:c.666C>T	XP_011512161.1:p.Pro222=
XM_011513860.1:c.666C>T	XP_011512162.1:p.Pro222=
XM_011513861.1:c.666C>T	XP_011512163.1:p.Pro222=
XM_011513862.1:c.270C>T	XP_011512164.1:p.Pro90=
XM_011513863.1:c.270C>T	XP_011512165.1:p.Pro90=
XM_011513864.1:c.258C>T	XP_011512166.1:p.Pro86=
XM_011513865.1:c.666C>T	XP_011512167.1:p.Pro222=
XM_011513866.1:c.666C>T	XP_011512168.1:p.Pro222=
XM_011513867.1:c.108C>T	XP_011512169.1:p.Pro36=
XM_011513868.1:c.666C>T	XP_011512170.1:p.Pro222=
XR_925341.1:n.762C>T
XM_006713968.4:c.666C>T	XP_006714031.1:p.Pro222=
XM_011513856.3:c.666C>T	XP_011512158.1:p.Pro222=
XM_011513859.3:c.666C>T	XP_011512161.1:p.Pro222=
XM_011513860.3:c.666C>T	XP_011512162.1:p.Pro222=
XM_011513861.3:c.666C>T	XP_011512163.1:p.Pro222=
XM_011513862.3:c.270C>T	XP_011512164.1:p.Pro90=
XM_011513864.2:c.258C>T	XP_011512166.1:p.Pro86=
XM_011513865.2:c.666C>T	XP_011512167.1:p.Pro222=
XM_011513866.2:c.666C>T	XP_011512168.1:p.Pro222=
XM_011513867.3:c.108C>T	XP_011512169.1:p.Pro36=
XM_011513868.2:c.666C>T	XP_011512170.1:p.Pro222=
XM_017008457.2:c.666C>T	XP_016863946.1:p.Pro222=
XM_017008458.2:c.666C>T	XP_016863947.1:p.Pro222=
XM_017008459.1:c.204C>T	XP_016863948.1:p.Pro68=
XM_017008460.2:c.270C>T	XP_016863949.1:p.Pro90=
XM_024454150.1:c.666C>T	XP_024309918.1:p.Pro222=
XM_024454151.1:c.279C>T	XP_024309919.1:p.Pro93=
XM_024454152.1:c.666C>T	XP_024309920.1:p.Pro222=
XM_024454153.1:c.666C>T	XP_024309921.1:p.Pro222=
XR_001741290.1:n.839C>T
XR_001741291.1:n.839C>T
XR_925341.3:n.843C>T
NM_020041.3:c.666C>T MANE Select	NP_064425.2:p.Pro222=
NM_001001290.2:c.579C>T	NP_001001290.1:p.Pro193=