Canonical Allele Identifier: CA16043445
Gene: PAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373907
ClinVar RCV Id: RCV000415347
dbSNP Id: rs1057518761
MyVariant Identifiers: chr10:g.102510450_102510463del (hg19) chr10:g.100750693_100750706del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100750695_100750708del , CM000672.2:g.100750695_100750708del GRCh38
NC_000010.10:g.102510452_102510465del , CM000672.1:g.102510452_102510465del GRCh37
NC_000010.9:g.102500442_102500455del NCBI36
NG_008680.1:g.9985_9998del
NG_008680.2:g.19987_20000del

Transcript Alleles

HGVS Amino-acid change
ENST00000707078.1:c.307_320del
ENST00000707079.1:c.214_227del
ENST00000355243.8:c.214_227del
ENST00000427256.6:c.214_227del
ENST00000679374.1:c.196_209del
ENST00000355243.7:c.214_227del
ENST00000361791.7:c.211_224del
ENST00000370296.6:c.214_227del
ENST00000427256.5:c.214_227del
ENST00000428433.5:c.214_227del
ENST00000553492.5:n.131+14962_131+14975del
ENST00000554172.2:c.226_239del
ENST00000554363.2:n.125+4392_125+4405del
NM_000278.3:c.214_227del
NM_001304569.1:c.307_320del
NM_003987.3:c.214_227del
NM_003988.3:c.214_227del
NM_003989.3:c.214_227del
NM_003990.3:c.214_227del
NM_000278.4:c.214_227del
NM_003987.4:c.214_227del
NM_003988.4:c.214_227del
NM_003989.4:c.214_227del
NM_003990.4:c.214_227del
NM_000278.5:c.214_227del
NM_001304569.2:c.307_320del
NM_003987.5:c.214_227del
NM_003988.5:c.214_227del
NM_003989.5:c.214_227del
NM_003990.5:c.214_227del
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