Canonical Allele Identifier: CA2580081094

Gene: PAX2

Linked Data

• ClinVar Variation Id: 2022166
• ClinVar RCV Id: RCV002847567

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100750708dup , CM000672.2:g.100750708dup	GRCh38
NC_000010.10:g.102510465dup , CM000672.1:g.102510465dup	GRCh37
NC_000010.9:g.102500455dup	NCBI36
NG_008680.1:g.9998dup
NG_008680.2:g.20000dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.320dup	ENSP00000516729.1:p.Ser108GlnfsTer25
ENST00000707079.1:c.227dup	ENSP00000516730.1:p.Ser77GlnfsTer25
ENST00000355243.8:c.227dup MANE Select	ENSP00000347385.3:p.Ser77GlnfsTer25
ENST00000427256.6:c.227dup	ENSP00000398652.2:p.Ser77GlnfsTer25
ENST00000679374.1:c.209dup	ENSP00000506041.1:p.Ser71GlnfsTer25
ENST00000355243.7:c.227dup	ENSP00000347385.2:p.Ser77GlnfsTer25
ENST00000361791.7:c.224dup	ENSP00000355069.4:p.Ser76GlnfsTer25
ENST00000370296.6:c.227dup	ENSP00000359319.3:p.Ser77GlnfsTer25
ENST00000427256.5:c.227dup	ENSP00000398652.1:p.Ser77GlnfsTer25
ENST00000428433.5:c.227dup	ENSP00000396259.1:p.Ser77GlnfsTer25
ENST00000553492.5:n.131+14975dup
ENST00000554172.2:c.239dup	ENSP00000452489.2:p.Ser81GlnfsTer25
ENST00000554363.2:n.125+4405dup
NM_000278.3:c.227dup	NP_000269.2:p.Ser77GlnfsTer25
NM_001304569.1:c.320dup	NP_001291498.1:p.Ser108GlnfsTer25
NM_003987.3:c.227dup	NP_003978.2:p.Ser77GlnfsTer25
NM_003988.3:c.227dup	NP_003979.2:p.Ser77GlnfsTer25
NM_003989.3:c.227dup	NP_003980.2:p.Ser77GlnfsTer25
NM_003990.3:c.227dup	NP_003981.2:p.Ser77GlnfsTer25
NM_000278.4:c.227dup	NP_000269.3:p.Ser77GlnfsTer25
NM_003987.4:c.227dup	NP_003978.3:p.Ser77GlnfsTer25
NM_003988.4:c.227dup	NP_003979.2:p.Ser77GlnfsTer25
NM_003989.4:c.227dup	NP_003980.3:p.Ser77GlnfsTer25
NM_003990.4:c.227dup	NP_003981.3:p.Ser77GlnfsTer25
NM_000278.5:c.227dup MANE Select	NP_000269.3:p.Ser77GlnfsTer25
NM_001304569.2:c.320dup	NP_001291498.1:p.Ser108GlnfsTer25
NM_003987.5:c.227dup	NP_003978.3:p.Ser77GlnfsTer25
NM_003988.5:c.227dup	NP_003979.2:p.Ser77GlnfsTer25
NM_003989.5:c.227dup	NP_003980.3:p.Ser77GlnfsTer25
NM_003990.5:c.227dup	NP_003981.3:p.Ser77GlnfsTer25