Canonical Allele Identifier: CA10575802
Gene: PAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 217289
ClinVar RCV Id: RCV000240626
dbSNP Id: rs886037757

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100750704_100750705dup , CM000672.2:g.100750704_100750705dup GRCh38
NC_000010.10:g.102510461_102510462dup , CM000672.1:g.102510461_102510462dup GRCh37
NC_000010.9:g.102500451_102500452dup NCBI36
NG_008680.1:g.9994_9995dup
NG_008680.2:g.19996_19997dup

Transcript Alleles

HGVS Amino-acid change
ENST00000707078.1:c.316_317dup ENSP00000516729.1:p.Gly107ProfsTer8
ENST00000707079.1:c.223_224dup ENSP00000516730.1:p.Gly76ProfsTer8
ENST00000355243.8:c.223_224dup MANE Select ENSP00000347385.3:p.Gly76ProfsTer8
ENST00000427256.6:c.223_224dup ENSP00000398652.2:p.Gly76ProfsTer8
ENST00000679374.1:c.205_206dup ENSP00000506041.1:p.Gly70ProfsTer8
ENST00000355243.7:c.223_224dup ENSP00000347385.2:p.Gly76ProfsTer8
ENST00000361791.7:c.220_221dup ENSP00000355069.4:p.Gly75ProfsTer8
ENST00000370296.6:c.223_224dup ENSP00000359319.3:p.Gly76ProfsTer8
ENST00000427256.5:c.223_224dup ENSP00000398652.1:p.Gly76ProfsTer8
ENST00000428433.5:c.223_224dup ENSP00000396259.1:p.Gly76ProfsTer8
ENST00000553492.5:n.131+14971_131+14972dup
ENST00000554172.2:c.235_236dup ENSP00000452489.2:p.Gly80ProfsTer8
ENST00000554363.2:n.125+4401_125+4402dup
NM_000278.3:c.223_224dup NP_000269.2:p.Gly76ProfsTer8
NM_001304569.1:c.316_317dup NP_001291498.1:p.Gly107ProfsTer8
NM_003987.3:c.223_224dup NP_003978.2:p.Gly76ProfsTer8
NM_003988.3:c.223_224dup NP_003979.2:p.Gly76ProfsTer8
NM_003989.3:c.223_224dup NP_003980.2:p.Gly76ProfsTer8
NM_003990.3:c.223_224dup NP_003981.2:p.Gly76ProfsTer8
NM_000278.4:c.223_224dup NP_000269.3:p.Gly76ProfsTer8
NM_003987.4:c.223_224dup NP_003978.3:p.Gly76ProfsTer8
NM_003988.4:c.223_224dup NP_003979.2:p.Gly76ProfsTer8
NM_003989.4:c.223_224dup NP_003980.3:p.Gly76ProfsTer8
NM_003990.4:c.223_224dup NP_003981.3:p.Gly76ProfsTer8
NM_000278.5:c.223_224dup MANE Select NP_000269.3:p.Gly76ProfsTer8
NM_001304569.2:c.316_317dup NP_001291498.1:p.Gly107ProfsTer8
NM_003987.5:c.223_224dup NP_003978.3:p.Gly76ProfsTer8
NM_003988.5:c.223_224dup NP_003979.2:p.Gly76ProfsTer8
NM_003989.5:c.223_224dup NP_003980.3:p.Gly76ProfsTer8
NM_003990.5:c.223_224dup NP_003981.3:p.Gly76ProfsTer8