Canonical Allele Identifier: CA658781249

Gene: PAX2

Linked Data

• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100806442_100806457del , CM000672.2:g.100806442_100806457del	GRCh38
NC_000010.10:g.102566199_102566214del , CM000672.1:g.102566199_102566214del	GRCh37
NC_000010.9:g.102556189_102556204del	NCBI36
NG_008680.1:g.65732_65747del
NG_008680.2:g.75734_75749del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.722_737del	ENSP00000516729.1:p.Gly241GlufsTer?
ENST00000707079.1:c.698_713del	ENSP00000516730.1:p.Gly233GlufsTer?
ENST00000355243.8:c.629_644del MANE Select	ENSP00000347385.3:p.Gly210GlufsTer?
ENST00000427256.6:c.629_644del	ENSP00000398652.2:p.Gly210GlufsTer?
ENST00000679374.1:c.611_626del	ENSP00000506041.1:p.Gly204GlufsTer?
ENST00000355243.7:c.629_644del	ENSP00000347385.2:p.Gly210GlufsTer?
ENST00000361791.7:c.626_641del	ENSP00000355069.4:p.Gly209GlufsTer?
ENST00000370296.6:c.629_644del	ENSP00000359319.3:p.Gly210GlufsTer?
ENST00000428433.5:c.698_713del	ENSP00000396259.1:p.Gly233GlufsTer?
ENST00000553492.5:n.350_365del
ENST00000554172.2:c.617_632del	ENSP00000452489.2:p.Gly206GlufsTer?
ENST00000554363.2:n.344_359del
NM_000278.3:c.629_644del	NP_000269.2:p.Gly210GlufsTer?
NM_001304569.1:c.722_737del	NP_001291498.1:p.Gly241GlufsTer?
NM_003987.3:c.698_713del	NP_003978.2:p.Gly233GlufsTer?
NM_003988.3:c.629_644del	NP_003979.2:p.Gly210GlufsTer?
NM_003989.3:c.629_644del	NP_003980.2:p.Gly210GlufsTer?
NM_003990.3:c.698_713del	NP_003981.2:p.Gly233GlufsTer?
NM_000278.4:c.629_644del	NP_000269.3:p.Gly210GlufsTer?
NM_003987.4:c.698_713del	NP_003978.3:p.Gly233GlufsTer?
NM_003988.4:c.629_644del	NP_003979.2:p.Gly210GlufsTer?
NM_003989.4:c.629_644del	NP_003980.3:p.Gly210GlufsTer?
NM_003990.4:c.698_713del	NP_003981.3:p.Gly233GlufsTer?
NM_000278.5:c.629_644del MANE Select	NP_000269.3:p.Gly210GlufsTer?
NM_001304569.2:c.722_737del	NP_001291498.1:p.Gly241GlufsTer?
NM_003987.5:c.698_713del	NP_003978.3:p.Gly233GlufsTer?
NM_003988.5:c.629_644del	NP_003979.2:p.Gly210GlufsTer?
NM_003989.5:c.629_644del	NP_003980.3:p.Gly210GlufsTer?
NM_003990.5:c.698_713del	NP_003981.3:p.Gly233GlufsTer?