Canonical Allele Identifier: CA1931936313

Gene: PAX2

Linked Data

• dbSNP Id: rs1564723416
• gnomAD v4: 10-100781218-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100781218A>C , CM000672.2:g.100781218A>C	GRCh38
NC_000010.10:g.102540975A>C , CM000672.1:g.102540975A>C	GRCh37
NC_000010.9:g.102530965A>C	NCBI36
NG_008680.1:g.40508A>C
NG_008680.2:g.50510A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.590-28A>C	ENSP00000516729.1:n.590-28A>C
ENST00000707079.1:c.497-28A>C	ENSP00000516730.1:n.497-28A>C
ENST00000355243.8:c.497-28A>C MANE Select	ENSP00000347385.3:n.497-28A>C
ENST00000427256.6:c.497-28A>C	ENSP00000398652.2:n.497-28A>C
ENST00000679374.1:c.479-28A>C	ENSP00000506041.1:n.479-28A>C
ENST00000355243.7:c.497-28A>C	ENSP00000347385.2:n.497-28A>C
ENST00000361791.7:c.494-28A>C	ENSP00000355069.4:n.494-28A>C
ENST00000370296.6:c.497-28A>C	ENSP00000359319.3:n.497-28A>C
ENST00000427256.5:c.497-28A>C	ENSP00000398652.1:n.497-28A>C
ENST00000428433.5:c.497-28A>C	ENSP00000396259.1:n.497-28A>C
ENST00000553492.5:n.218-28A>C
ENST00000554172.2:c.509-28A>C	ENSP00000452489.2:n.509-28A>C
ENST00000554363.2:n.212-28A>C
NM_000278.3:c.497-28A>C	NP_000269.2:n.497-28A>C
NM_001304569.1:c.590-28A>C	NP_001291498.1:n.590-28A>C
NM_003987.3:c.497-28A>C	NP_003978.2:n.497-28A>C
NM_003988.3:c.497-28A>C	NP_003979.2:n.497-28A>C
NM_003989.3:c.497-28A>C	NP_003980.2:n.497-28A>C
NM_003990.3:c.497-28A>C	NP_003981.2:n.497-28A>C
NM_000278.4:c.497-28A>C	NP_000269.3:n.497-28A>C
NM_003987.4:c.497-28A>C	NP_003978.3:n.497-28A>C
NM_003988.4:c.497-28A>C	NP_003979.2:n.497-28A>C
NM_003989.4:c.497-28A>C	NP_003980.3:n.497-28A>C
NM_003990.4:c.497-28A>C	NP_003981.3:n.497-28A>C
NM_000278.5:c.497-28A>C MANE Select	NP_000269.3:n.497-28A>C
NM_001304569.2:c.590-28A>C	NP_001291498.1:n.590-28A>C
NM_003987.5:c.497-28A>C	NP_003978.3:n.497-28A>C
NM_003988.5:c.497-28A>C	NP_003979.2:n.497-28A>C
NM_003989.5:c.497-28A>C	NP_003980.3:n.497-28A>C
NM_003990.5:c.497-28A>C	NP_003981.3:n.497-28A>C