Canonical Allele Identifier: CA13166922

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100745602C>A , CM000672.2:g.100745602C>A	GRCh38
NC_000010.10:g.102505359C>A , CM000672.1:g.102505359C>A	GRCh37
NC_000010.9:g.102495349C>A	NCBI36
NG_008680.1:g.4892C>A
NG_008680.2:g.14894C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000278.5:c.-659C>A MANE Select	NP_000269.3:n.-659C>A
ENST00000355243.8:c.-659C>A MANE Select	ENSP00000347385.3:n.-659C>A
NM_001304569.1:c.26-591C>A	NP_001291498.1:n.26-591C>A
NM_001304569.2:c.26-591C>A	NP_001291498.1:n.26-591C>A
NM_001374303.1:c.26-591C>A	NP_001361232.1:n.26-591C>A
NM_003987.5:c.-659C>A	NP_003978.3:n.-659C>A
NM_003988.5:c.-659C>A	NP_003979.2:n.-659C>A
NM_003989.5:c.-659C>A	NP_003980.3:n.-659C>A
NM_003990.5:c.-659C>A	NP_003981.3:n.-659C>A
ENST00000427256.6:c.-659C>A	ENSP00000398652.2:n.-659C>A
ENST00000553492.5:n.131+9869C>A
ENST00000679374.1:c.26-4144C>A	ENSP00000506041.1:n.26-4144C>A
ENST00000707078.1:c.26-591C>A	ENSP00000516729.1:n.26-591C>A
ENST00000707079.1:c.-659C>A	ENSP00000516730.1:n.-659C>A