Canonical Allele Identifier: CA1931907356
Gene: PAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100749869G= , CM000672.2:g.100749869G= GRCh38
NC_000010.10:g.102509626G= , CM000672.1:g.102509626G= GRCh37
NC_000010.9:g.102499616G= NCBI36
NG_008680.1:g.9159G=
NG_008680.2:g.19161G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000707078.1:c.260G= ENSP00000516729.1:p.Arg87=
ENST00000707079.1:c.167G= ENSP00000516730.1:p.Arg56=
ENST00000355243.8:c.167G= MANE Select ENSP00000347385.3:p.Arg56=
ENST00000427256.6:c.167G= ENSP00000398652.2:p.Arg56=
ENST00000679374.1:c.149G= ENSP00000506041.1:p.Arg50=
ENST00000355243.7:c.167G= ENSP00000347385.2:p.Arg56=
ENST00000361791.7:c.164G= ENSP00000355069.4:p.Arg55=
ENST00000370296.6:c.167G= ENSP00000359319.3:p.Arg56=
ENST00000427256.5:c.167G= ENSP00000398652.1:p.Arg56=
ENST00000428433.5:c.167G= ENSP00000396259.1:p.Arg56=
ENST00000483202.2:n.1169G=
ENST00000553492.5:n.131+14136G=
ENST00000554172.2:c.179G= ENSP00000452489.2:p.Arg60=
ENST00000554363.2:n.125+3566G=
NM_000278.3:c.167G= NP_000269.2:p.Arg56=
NM_001304569.1:c.260G= NP_001291498.1:p.Arg87=
NM_003987.3:c.167G= NP_003978.2:p.Arg56=
NM_003988.3:c.167G= NP_003979.2:p.Arg56=
NM_003989.3:c.167G= NP_003980.2:p.Arg56=
NM_003990.3:c.167G= NP_003981.2:p.Arg56=
NM_000278.4:c.167G= NP_000269.3:p.Arg56=
NM_003987.4:c.167G= NP_003978.3:p.Arg56=
NM_003988.4:c.167G= NP_003979.2:p.Arg56=
NM_003989.4:c.167G= NP_003980.3:p.Arg56=
NM_003990.4:c.167G= NP_003981.3:p.Arg56=
NM_000278.5:c.167G= MANE Select NP_000269.3:p.Arg56=
NM_001304569.2:c.260G= NP_001291498.1:p.Arg87=
NM_003987.5:c.167G= NP_003978.3:p.Arg56=
NM_003988.5:c.167G= NP_003979.2:p.Arg56=
NM_003989.5:c.167G= NP_003980.3:p.Arg56=
NM_003990.5:c.167G= NP_003981.3:p.Arg56=