Canonical Allele Identifier: CA2580081083
Gene: PAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1879142
ClinVar RCV Id: RCV002511641

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100749771del , CM000672.2:g.100749771del GRCh38
NC_000010.10:g.102509528del , CM000672.1:g.102509528del GRCh37
NC_000010.9:g.102499518del NCBI36
NG_008680.1:g.9061del
NG_008680.2:g.19063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000707078.1:c.162del ENSP00000516729.1:p.Val57CysfsTer3
ENST00000707079.1:c.69del ENSP00000516730.1:p.Val26CysfsTer3
ENST00000355243.8:c.69del MANE Select ENSP00000347385.3:p.Val26CysfsTer3
ENST00000427256.6:c.69del ENSP00000398652.2:p.Val26CysfsTer3
ENST00000679374.1:c.51del ENSP00000506041.1:p.Val20CysfsTer3
ENST00000355243.7:c.69del ENSP00000347385.2:p.Val26CysfsTer3
ENST00000361791.7:c.66del ENSP00000355069.4:p.Val25CysfsTer3
ENST00000370296.6:c.69del ENSP00000359319.3:p.Val26CysfsTer3
ENST00000427256.5:c.69del ENSP00000398652.1:p.Val26CysfsTer3
ENST00000428433.5:c.69del ENSP00000396259.1:p.Val26CysfsTer3
ENST00000483202.2:n.1071del
ENST00000553492.5:n.131+14038del
ENST00000554172.2:c.81del ENSP00000452489.2:p.Val30CysfsTer3
ENST00000554363.2:n.125+3468del
NM_000278.3:c.69del NP_000269.2:p.Val26CysfsTer3
NM_001304569.1:c.162del NP_001291498.1:p.Val57CysfsTer3
NM_003987.3:c.69del NP_003978.2:p.Val26CysfsTer3
NM_003988.3:c.69del NP_003979.2:p.Val26CysfsTer3
NM_003989.3:c.69del NP_003980.2:p.Val26CysfsTer3
NM_003990.3:c.69del NP_003981.2:p.Val26CysfsTer3
NM_000278.4:c.69del NP_000269.3:p.Val26CysfsTer3
NM_003987.4:c.69del NP_003978.3:p.Val26CysfsTer3
NM_003988.4:c.69del NP_003979.2:p.Val26CysfsTer3
NM_003989.4:c.69del NP_003980.3:p.Val26CysfsTer3
NM_003990.4:c.69del NP_003981.3:p.Val26CysfsTer3
NM_000278.5:c.69del MANE Select NP_000269.3:p.Val26CysfsTer3
NM_001304569.2:c.162del NP_001291498.1:p.Val57CysfsTer3
NM_003987.5:c.69del NP_003978.3:p.Val26CysfsTer3
NM_003988.5:c.69del NP_003979.2:p.Val26CysfsTer3
NM_003989.5:c.69del NP_003980.3:p.Val26CysfsTer3
NM_003990.5:c.69del NP_003981.3:p.Val26CysfsTer3