Canonical Allele Identifier: CA1931907743
Gene: PAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100750636_100750637delinsGC , CM000672.2:g.100750636_100750637delinsGC GRCh38
NC_000010.10:g.102510393_102510394delinsGC , CM000672.1:g.102510393_102510394delinsGC GRCh37
NC_000010.9:g.102500383_102500384delinsGC NCBI36
NG_008680.1:g.9926_9927delinsGC
NG_008680.2:g.19928_19929delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000707078.1:c.306-58_306-57delinsGC ENSP00000516729.1:n.306-58_306-57delinsGC...
ENST00000707079.1:c.213-58_213-57delinsGC ENSP00000516730.1:n.213-58_213-57delinsGC...
ENST00000355243.8:c.213-58_213-57delinsGC MANE Select ENSP00000347385.3:n.213-58_213-57delinsGC...
ENST00000427256.6:c.213-58_213-57delinsGC ENSP00000398652.2:n.213-58_213-57delinsGC...
ENST00000679374.1:c.195-58_195-57delinsGC ENSP00000506041.1:n.195-58_195-57delinsGC...
ENST00000355243.7:c.213-58_213-57delinsGC ENSP00000347385.2:n.213-58_213-57delinsGC...
ENST00000361791.7:c.210-58_210-57delinsGC ENSP00000355069.4:n.210-58_210-57delinsGC...
ENST00000370296.6:c.213-58_213-57delinsGC ENSP00000359319.3:n.213-58_213-57delinsGC...
ENST00000427256.5:c.213-58_213-57delinsGC ENSP00000398652.1:n.213-58_213-57delinsGC...
ENST00000428433.5:c.213-58_213-57delinsGC ENSP00000396259.1:n.213-58_213-57delinsGC...
ENST00000553492.5:n.131+14903_131+14904delinsGC
ENST00000554172.2:c.225-58_225-57delinsGC ENSP00000452489.2:n.225-58_225-57delinsGC...
ENST00000554363.2:n.125+4333_125+4334delinsGC
NM_000278.3:c.213-58_213-57delinsGC NP_000269.2:n.213-58_213-57delinsGC
NM_001304569.1:c.306-58_306-57delinsGC NP_001291498.1:n.306-58_306-57delinsGC
NM_003987.3:c.213-58_213-57delinsGC NP_003978.2:n.213-58_213-57delinsGC
NM_003988.3:c.213-58_213-57delinsGC NP_003979.2:n.213-58_213-57delinsGC
NM_003989.3:c.213-58_213-57delinsGC NP_003980.2:n.213-58_213-57delinsGC
NM_003990.3:c.213-58_213-57delinsGC NP_003981.2:n.213-58_213-57delinsGC
NM_000278.4:c.213-58_213-57delinsGC NP_000269.3:n.213-58_213-57delinsGC
NM_003987.4:c.213-58_213-57delinsGC NP_003978.3:n.213-58_213-57delinsGC
NM_003988.4:c.213-58_213-57delinsGC NP_003979.2:n.213-58_213-57delinsGC
NM_003989.4:c.213-58_213-57delinsGC NP_003980.3:n.213-58_213-57delinsGC
NM_003990.4:c.213-58_213-57delinsGC NP_003981.3:n.213-58_213-57delinsGC
NM_000278.5:c.213-58_213-57delinsGC MANE Select NP_000269.3:n.213-58_213-57delinsGC
NM_001304569.2:c.306-58_306-57delinsGC NP_001291498.1:n.306-58_306-57delinsGC
NM_003987.5:c.213-58_213-57delinsGC NP_003978.3:n.213-58_213-57delinsGC
NM_003988.5:c.213-58_213-57delinsGC NP_003979.2:n.213-58_213-57delinsGC
NM_003989.5:c.213-58_213-57delinsGC NP_003980.3:n.213-58_213-57delinsGC
NM_003990.5:c.213-58_213-57delinsGC NP_003981.3:n.213-58_213-57delinsGC