Canonical Allele Identifier: CA378258916

Gene: PAX2

Linked Data

• ClinVar Variation Id: 1476575
• ClinVar RCV Id: RCV002014855
• dbSNP Id: rs1564737100
• gnomAD v4: 10-100806461-T-G
• MyVariant Identifiers: chr10:g.102566218T>G (hg19) ; chr10:g.100806461T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100806461T>G , CM000672.2:g.100806461T>G	GRCh38
NC_000010.10:g.102566218T>G , CM000672.1:g.102566218T>G	GRCh37
NC_000010.9:g.102556208T>G	NCBI36
NG_008680.1:g.65751T>G
NG_008680.2:g.75753T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.741T>G	ENSP00000516729.1:p.Asp247Glu
ENST00000707079.1:c.717T>G	ENSP00000516730.1:p.Asp239Glu
ENST00000355243.8:c.648T>G MANE Select	ENSP00000347385.3:p.Asp216Glu
ENST00000427256.6:c.648T>G	ENSP00000398652.2:p.Asp216Glu
ENST00000679374.1:c.630T>G	ENSP00000506041.1:p.Asp210Glu
ENST00000355243.7:c.648T>G	ENSP00000347385.2:p.Asp216Glu
ENST00000361791.7:c.645T>G	ENSP00000355069.4:p.Asp215Glu
ENST00000370296.6:c.648T>G	ENSP00000359319.3:p.Asp216Glu
ENST00000428433.5:c.717T>G	ENSP00000396259.1:p.Asp239Glu
ENST00000553492.5:n.369T>G
ENST00000554172.2:c.636T>G	ENSP00000452489.2:p.Asp212Glu
ENST00000554363.2:n.363T>G
NM_000278.3:c.648T>G	NP_000269.2:p.Asp216Glu
NM_001304569.1:c.741T>G	NP_001291498.1:p.Asp247Glu
NM_003987.3:c.717T>G	NP_003978.2:p.Asp239Glu
NM_003988.3:c.648T>G	NP_003979.2:p.Asp216Glu
NM_003989.3:c.648T>G	NP_003980.2:p.Asp216Glu
NM_003990.3:c.717T>G	NP_003981.2:p.Asp239Glu
NM_000278.4:c.648T>G	NP_000269.3:p.Asp216Glu
NM_003987.4:c.717T>G	NP_003978.3:p.Asp239Glu
NM_003988.4:c.648T>G	NP_003979.2:p.Asp216Glu
NM_003989.4:c.648T>G	NP_003980.3:p.Asp216Glu
NM_003990.4:c.717T>G	NP_003981.3:p.Asp239Glu
NM_000278.5:c.648T>G MANE Select	NP_000269.3:p.Asp216Glu
NM_001304569.2:c.741T>G	NP_001291498.1:p.Asp247Glu
NM_003987.5:c.717T>G	NP_003978.3:p.Asp239Glu
NM_003988.5:c.648T>G	NP_003979.2:p.Asp216Glu
NM_003989.5:c.648T>G	NP_003980.3:p.Asp216Glu
NM_003990.5:c.717T>G	NP_003981.3:p.Asp239Glu