Canonical Allele Identifier: CA2740093506

Gene: PAX2

Linked Data

• ClinVar Variation Id: 2953890
• ClinVar RCV Id: RCV003813113

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749819_100749823del , CM000672.2:g.100749819_100749823del	GRCh38
NC_000010.10:g.102509576_102509580del , CM000672.1:g.102509576_102509580del	GRCh37
NC_000010.9:g.102499566_102499570del	NCBI36
NG_008680.1:g.9109_9113del
NG_008680.2:g.19111_19115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.210_214del	ENSP00000516729.1:p.Gln70HisfsTer13
ENST00000707079.1:c.117_121del	ENSP00000516730.1:p.Gln39HisfsTer13
ENST00000355243.8:c.117_121del MANE Select	ENSP00000347385.3:p.Gln39HisfsTer13
ENST00000427256.6:c.117_121del	ENSP00000398652.2:p.Gln39HisfsTer13
ENST00000679374.1:c.99_103del	ENSP00000506041.1:p.Gln33HisfsTer13
ENST00000355243.7:c.117_121del	ENSP00000347385.2:p.Gln39HisfsTer13
ENST00000361791.7:c.114_118del	ENSP00000355069.4:p.Gln38HisfsTer13
ENST00000370296.6:c.117_121del	ENSP00000359319.3:p.Gln39HisfsTer13
ENST00000427256.5:c.117_121del	ENSP00000398652.1:p.Gln39HisfsTer13
ENST00000428433.5:c.117_121del	ENSP00000396259.1:p.Gln39HisfsTer13
ENST00000483202.2:n.1119_1123del
ENST00000553492.5:n.131+14086_131+14090del
ENST00000554172.2:c.129_133del	ENSP00000452489.2:p.Gln43HisfsTer13
ENST00000554363.2:n.125+3516_125+3520del
NM_000278.3:c.117_121del	NP_000269.2:p.Gln39HisfsTer13
NM_001304569.1:c.210_214del	NP_001291498.1:p.Gln70HisfsTer13
NM_003987.3:c.117_121del	NP_003978.2:p.Gln39HisfsTer13
NM_003988.3:c.117_121del	NP_003979.2:p.Gln39HisfsTer13
NM_003989.3:c.117_121del	NP_003980.2:p.Gln39HisfsTer13
NM_003990.3:c.117_121del	NP_003981.2:p.Gln39HisfsTer13
NM_000278.4:c.117_121del	NP_000269.3:p.Gln39HisfsTer13
NM_003987.4:c.117_121del	NP_003978.3:p.Gln39HisfsTer13
NM_003988.4:c.117_121del	NP_003979.2:p.Gln39HisfsTer13
NM_003989.4:c.117_121del	NP_003980.3:p.Gln39HisfsTer13
NM_003990.4:c.117_121del	NP_003981.3:p.Gln39HisfsTer13
NM_000278.5:c.117_121del MANE Select	NP_000269.3:p.Gln39HisfsTer13
NM_001304569.2:c.210_214del	NP_001291498.1:p.Gln70HisfsTer13
NM_003987.5:c.117_121del	NP_003978.3:p.Gln39HisfsTer13
NM_003988.5:c.117_121del	NP_003979.2:p.Gln39HisfsTer13
NM_003989.5:c.117_121del	NP_003980.3:p.Gln39HisfsTer13
NM_003990.5:c.117_121del	NP_003981.3:p.Gln39HisfsTer13