Canonical Allele Identifier: CA3003324478

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100809186dup , CM000672.2:g.100809186dup	GRCh38
NC_000010.10:g.102568943dup , CM000672.1:g.102568943dup	GRCh37
NC_000010.9:g.102558933dup	NCBI36
NG_008680.1:g.68476dup
NG_008680.2:g.78478dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000278.5:c.869dup MANE Select	NP_000269.3:p.Glu291Ter
ENST00000355243.8:c.869dup MANE Select	ENSP00000347385.3:p.Glu291Ter
NM_000278.3:c.869dup	NP_000269.2:p.Glu291Ter
NM_000278.4:c.869dup	NP_000269.3:p.Glu291Ter
NM_001304569.1:c.962dup	NP_001291498.1:p.Glu322Ter
NM_001304569.2:c.962dup	NP_001291498.1:p.Glu322Ter
NM_003987.3:c.938dup	NP_003978.2:p.Glu314Ter
NM_003987.4:c.938dup	NP_003978.3:p.Glu314Ter
NM_003987.5:c.938dup	NP_003978.3:p.Glu314Ter
NM_003988.3:c.869dup	NP_003979.2:p.Glu291Ter
NM_003988.4:c.869dup	NP_003979.2:p.Glu291Ter
NM_003988.5:c.869dup	NP_003979.2:p.Glu291Ter
NM_003989.3:c.869dup	NP_003980.2:p.Glu291Ter
NM_003989.4:c.869dup	NP_003980.3:p.Glu291Ter
NM_003989.5:c.869dup	NP_003980.3:p.Glu291Ter
NM_003990.3:c.938dup	NP_003981.2:p.Glu314Ter
NM_003990.4:c.938dup	NP_003981.3:p.Glu314Ter
NM_003990.5:c.938dup	NP_003981.3:p.Glu314Ter
ENST00000355243.7:c.869dup	ENSP00000347385.2:p.Glu291Ter
ENST00000361791.7:c.866dup	ENSP00000355069.4:p.Glu290Ter
ENST00000370296.6:c.869dup	ENSP00000359319.3:p.Glu291Ter
ENST00000427256.6:c.869dup	ENSP00000398652.2:p.Glu291Ter
ENST00000428433.5:c.938dup	ENSP00000396259.1:p.Glu314Ter
ENST00000554172.2:c.857dup	ENSP00000452489.2:p.Glu287Ter
ENST00000679374.1:c.851dup	ENSP00000506041.1:p.Glu285Ter
ENST00000707078.1:c.962dup	ENSP00000516729.1:p.Glu322Ter
ENST00000707079.1:c.938dup	ENSP00000516730.1:p.Glu314Ter