Canonical Allele Identifier: CA256965
Gene: PAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13797
ClinVar RCV Id: RCV000014808
dbSNP Id: rs76675173
MyVariant Identifiers: chr10:g.102509589_102509610del (hg19) chr10:g.100749832_100749853del (hg38)
PubMed: PMID:9106533 PMID:22213154
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100749833_100749854del , CM000672.2:g.100749833_100749854del GRCh38
NC_000010.10:g.102509590_102509611del , CM000672.1:g.102509590_102509611del GRCh37
NC_000010.9:g.102499580_102499601del NCBI36
NG_008680.1:g.9123_9144del
NG_008680.2:g.19125_19146del

Transcript Alleles

HGVS Amino-acid change
ENST00000707078.1:c.224_245del ENSP00000516729.1:p.Leu75ProfsTer?
ENST00000707079.1:c.131_152del ENSP00000516730.1:p.Leu44ProfsTer?
ENST00000355243.8:c.131_152del MANE Select ENSP00000347385.3:p.Leu44ProfsTer?
ENST00000427256.6:c.131_152del ENSP00000398652.2:p.Leu44ProfsTer?
ENST00000679374.1:c.113_134del ENSP00000506041.1:p.Leu38ProfsTer?
ENST00000355243.7:c.131_152del ENSP00000347385.2:p.Leu44ProfsTer?
ENST00000361791.7:c.128_149del ENSP00000355069.4:p.Leu43ProfsTer?
ENST00000370296.6:c.131_152del ENSP00000359319.3:p.Leu44ProfsTer?
ENST00000427256.5:c.131_152del ENSP00000398652.1:p.Leu44ProfsTer?
ENST00000428433.5:c.131_152del ENSP00000396259.1:p.Leu44ProfsTer?
ENST00000483202.2:n.1133_1154del
ENST00000553492.5:n.131+14100_131+14121del
ENST00000554172.2:c.143_164del ENSP00000452489.2:p.Leu48ProfsTer?
ENST00000554363.2:n.125+3530_125+3551del
NM_000278.3:c.131_152del NP_000269.2:p.Leu44ProfsTer?
NM_001304569.1:c.224_245del NP_001291498.1:p.Leu75ProfsTer?
NM_003987.3:c.131_152del NP_003978.2:p.Leu44ProfsTer?
NM_003988.3:c.131_152del NP_003979.2:p.Leu44ProfsTer?
NM_003989.3:c.131_152del NP_003980.2:p.Leu44ProfsTer?
NM_003990.3:c.131_152del NP_003981.2:p.Leu44ProfsTer?
NM_000278.4:c.131_152del NP_000269.3:p.Leu44ProfsTer?
NM_003987.4:c.131_152del NP_003978.3:p.Leu44ProfsTer?
NM_003988.4:c.131_152del NP_003979.2:p.Leu44ProfsTer?
NM_003989.4:c.131_152del NP_003980.3:p.Leu44ProfsTer?
NM_003990.4:c.131_152del NP_003981.3:p.Leu44ProfsTer?
NM_000278.5:c.131_152del MANE Select NP_000269.3:p.Leu44ProfsTer?
NM_001304569.2:c.224_245del NP_001291498.1:p.Leu75ProfsTer?
NM_003987.5:c.131_152del NP_003978.3:p.Leu44ProfsTer?
NM_003988.5:c.131_152del NP_003979.2:p.Leu44ProfsTer?
NM_003989.5:c.131_152del NP_003980.3:p.Leu44ProfsTer?
NM_003990.5:c.131_152del NP_003981.3:p.Leu44ProfsTer?
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