Canonical Allele Identifier: CA13166923

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100745886C>A , CM000672.2:g.100745886C>A	GRCh38
NC_000010.10:g.102505643C>A , CM000672.1:g.102505643C>A	GRCh37
NC_000010.9:g.102495633C>A	NCBI36
NG_008680.1:g.5176C>A
NG_008680.2:g.15178C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000278.5:c.-375C>A MANE Select	NP_000269.3:n.-375C>A
ENST00000355243.8:c.-375C>A MANE Select	ENSP00000347385.3:n.-375C>A
NM_000278.3:c.-375C>A	NP_000269.2:n.-375C>A
NM_000278.4:c.-375C>A	NP_000269.3:n.-375C>A
NM_001304569.1:c.26-307C>A	NP_001291498.1:n.26-307C>A
NM_001304569.2:c.26-307C>A	NP_001291498.1:n.26-307C>A
NM_001374303.1:c.26-307C>A	NP_001361232.1:n.26-307C>A
NM_003987.3:c.-375C>A	NP_003978.2:n.-375C>A
NM_003987.4:c.-375C>A	NP_003978.3:n.-375C>A
NM_003987.5:c.-375C>A	NP_003978.3:n.-375C>A
NM_003988.3:c.-375C>A	NP_003979.2:n.-375C>A
NM_003988.4:c.-375C>A	NP_003979.2:n.-375C>A
NM_003988.5:c.-375C>A	NP_003979.2:n.-375C>A
NM_003989.3:c.-375C>A	NP_003980.2:n.-375C>A
NM_003989.4:c.-375C>A	NP_003980.3:n.-375C>A
NM_003989.5:c.-375C>A	NP_003980.3:n.-375C>A
NM_003990.3:c.-375C>A	NP_003981.2:n.-375C>A
NM_003990.4:c.-375C>A	NP_003981.3:n.-375C>A
NM_003990.5:c.-375C>A	NP_003981.3:n.-375C>A
ENST00000355243.7:c.-375C>A	ENSP00000347385.2:n.-375C>A
ENST00000370296.6:c.-375C>A	ENSP00000359319.3:n.-375C>A
ENST00000427256.6:c.-375C>A	ENSP00000398652.2:n.-375C>A
ENST00000428433.5:c.-375C>A	ENSP00000396259.1:n.-375C>A
ENST00000553492.5:n.131+10153C>A
ENST00000679374.1:c.26-3860C>A	ENSP00000506041.1:n.26-3860C>A
ENST00000707078.1:c.26-307C>A	ENSP00000516729.1:n.26-307C>A
ENST00000707079.1:c.-375C>A	ENSP00000516730.1:n.-375C>A