Canonical Allele Identifier: CA378260128

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100827083C>T , CM000672.2:g.100827083C>T	GRCh38
NC_000010.10:g.102586840C>T , CM000672.1:g.102586840C>T	GRCh37
NC_000010.9:g.102576830C>T	NCBI36
NG_008680.1:g.86373C>T
NG_008680.2:g.96375C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000278.5:c.1096C>T MANE Select	NP_000269.3:p.Pro366Ser
ENST00000355243.8:c.1096C>T MANE Select	ENSP00000347385.3:p.Pro366Ser
NM_000278.3:c.1096C>T	NP_000269.2:p.Pro366Ser
NM_000278.4:c.1096C>T	NP_000269.3:p.Pro366Ser
NM_001304569.1:c.1189C>T	NP_001291498.1:p.Pro397Ser
NM_001304569.2:c.1189C>T	NP_001291498.1:p.Pro397Ser
NM_003987.3:c.1165C>T	NP_003978.2:p.Pro389Ser
NM_003987.4:c.1165C>T	NP_003978.3:p.Pro389Ser
NM_003987.5:c.1165C>T	NP_003978.3:p.Pro389Ser
NM_003988.3:c.1179C>T	NP_003979.2:p.Thr393=
NM_003988.4:c.1179C>T	NP_003979.2:p.Thr393=
NM_003988.5:c.1179C>T	NP_003979.2:p.Thr393=
NM_003989.3:c.1096C>T	NP_003980.2:p.Pro366Ser
NM_003989.4:c.1096C>T	NP_003980.3:p.Pro366Ser
NM_003989.5:c.1096C>T	NP_003980.3:p.Pro366Ser
NM_003990.3:c.1165C>T	NP_003981.2:p.Pro389Ser
NM_003990.4:c.1165C>T	NP_003981.3:p.Pro389Ser
NM_003990.5:c.1165C>T	NP_003981.3:p.Pro389Ser
ENST00000355243.7:c.1096C>T	ENSP00000347385.2:p.Pro366Ser
ENST00000361791.7:c.1093C>T	ENSP00000355069.4:p.Pro365Ser
ENST00000370296.6:c.1179C>T	ENSP00000359319.3:p.Thr393=
ENST00000427256.6:c.1096C>T	ENSP00000398652.2:p.Pro366Ser
ENST00000428433.5:c.1165C>T	ENSP00000396259.1:p.Pro389Ser
ENST00000679374.1:c.1078C>T	ENSP00000506041.1:p.Pro360Ser
ENST00000707078.1:c.1189C>T	ENSP00000516729.1:p.Pro397Ser
ENST00000707079.1:c.1165C>T	ENSP00000516730.1:p.Pro389Ser