Canonical Allele Identifier: CA13227889

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100827817T>C , CM000672.2:g.100827817T>C	GRCh38
NC_000010.10:g.102587574T>C , CM000672.1:g.102587574T>C	GRCh37
NC_000010.9:g.102577564T>C	NCBI36
NG_008680.1:g.87104T>C
NG_008680.2:g.97109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.*198T>C	ENSP00000516729.1:n.*198T>C
ENST00000707079.1:c.*134T>C	ENSP00000516730.1:n.*134T>C
ENST00000355243.8:c.*198T>C MANE Select	ENSP00000347385.3:n.*198T>C
ENST00000427256.6:c.*134T>C	ENSP00000398652.2:n.*134T>C
ENST00000679374.1:c.*198T>C	ENSP00000506041.1:n.*198T>C
ENST00000355243.7:c.*198T>C	ENSP00000347385.2:n.*198T>C
ENST00000361791.7:c.*198T>C	ENSP00000355069.4:n.*198T>C
ENST00000370296.6:c.*275T>C	ENSP00000359319.3:n.*275T>C
ENST00000428433.5:c.*198T>C	ENSP00000396259.1:n.*198T>C
NM_000278.3:c.*198T>C	NP_000269.2:n.*198T>C
NM_001304569.1:c.1476T>C	NP_001291498.1:n.1476T>C
NM_003987.3:c.*198T>C	NP_003978.2:n.*198T>C
NM_003988.3:c.*272T>C	NP_003979.2:n.*272T>C
NM_003989.3:c.*134T>C	NP_003980.2:n.*134T>C
NM_003990.3:c.*134T>C	NP_003981.2:n.*134T>C
NM_000278.4:c.*198T>C	NP_000269.3:n.*198T>C
NM_003987.4:c.*198T>C	NP_003978.3:n.*198T>C
NM_003988.4:c.*275T>C	NP_003979.2:n.*275T>C
NM_003989.4:c.*134T>C	NP_003980.3:n.*134T>C
NM_003990.4:c.*134T>C	NP_003981.3:n.*134T>C
NM_000278.5:c.*198T>C MANE Select	NP_000269.3:n.*198T>C
NM_001304569.2:c.*198T>C	NP_001291498.1:n.*198T>C
NM_003987.5:c.*198T>C	NP_003978.3:n.*198T>C
NM_003988.5:c.*275T>C	NP_003979.2:n.*275T>C
NM_003989.5:c.*134T>C	NP_003980.3:n.*134T>C
NM_003990.5:c.*134T>C	NP_003981.3:n.*134T>C