Canonical Allele Identifier: CA1139661652

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100827626C>A , CM000672.2:g.100827626C>A	GRCh38
NC_000010.10:g.102587383C>A , CM000672.1:g.102587383C>A	GRCh37
NC_000010.9:g.102577373C>A	NCBI36
NG_008680.1:g.86913C>A
NG_008680.2:g.96918C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000278.5:c.*7C>A MANE Select	NP_000269.3:n.*7C>A
ENST00000355243.8:c.*7C>A MANE Select	ENSP00000347385.3:n.*7C>A
NM_000278.3:c.*7C>A	NP_000269.2:n.*7C>A
NM_000278.4:c.*7C>A	NP_000269.3:n.*7C>A
NM_001304569.1:c.1285C>A	NP_001291498.1:n.1285C>A
NM_001304569.2:c.*7C>A	NP_001291498.1:n.*7C>A
NM_003987.3:c.*7C>A	NP_003978.2:n.*7C>A
NM_003987.4:c.*7C>A	NP_003978.3:n.*7C>A
NM_003987.5:c.*7C>A	NP_003978.3:n.*7C>A
NM_003988.3:c.*81C>A	NP_003979.2:n.*81C>A
NM_003988.4:c.*84C>A	NP_003979.2:n.*84C>A
NM_003988.5:c.*84C>A	NP_003979.2:n.*84C>A
NM_003989.3:c.1170C>A	NP_003980.2:p.Arg390=
NM_003989.4:c.1173C>A	NP_003980.3:p.Arg391=
NM_003989.5:c.1173C>A	NP_003980.3:p.Arg391=
NM_003990.3:c.1239C>A	NP_003981.2:p.Arg413=
NM_003990.4:c.1242C>A	NP_003981.3:p.Arg414=
NM_003990.5:c.1242C>A	NP_003981.3:p.Arg414=
ENST00000355243.7:c.*7C>A	ENSP00000347385.2:n.*7C>A
ENST00000361791.7:c.*7C>A	ENSP00000355069.4:n.*7C>A
ENST00000370296.6:c.*84C>A	ENSP00000359319.3:n.*84C>A
ENST00000427256.6:c.1173C>A	ENSP00000398652.2:p.Arg391=
ENST00000428433.5:c.*7C>A	ENSP00000396259.1:n.*7C>A
ENST00000679374.1:c.*7C>A	ENSP00000506041.1:n.*7C>A
ENST00000707078.1:c.*7C>A	ENSP00000516729.1:n.*7C>A
ENST00000707079.1:c.1242C>A	ENSP00000516730.1:p.Arg414=