Canonical Allele Identifier: CA213066839

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100781637C>T , CM000672.2:g.100781637C>T	GRCh38
NC_000010.10:g.102541394C>T , CM000672.1:g.102541394C>T	GRCh37
NC_000010.9:g.102531384C>T	NCBI36
NG_008680.1:g.40927C>T
NG_008680.2:g.50929C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000278.5:c.616+272C>T MANE Select	NP_000269.3:n.616+272C>T
ENST00000355243.8:c.616+272C>T MANE Select	ENSP00000347385.3:n.616+272C>T
NM_000278.3:c.616+272C>T	NP_000269.2:n.616+272C>T
NM_000278.4:c.616+272C>T	NP_000269.3:n.616+272C>T
NM_001304569.1:c.709+272C>T	NP_001291498.1:n.709+272C>T
NM_001304569.2:c.709+272C>T	NP_001291498.1:n.709+272C>T
NM_003987.3:c.616+272C>T	NP_003978.2:n.616+272C>T
NM_003987.4:c.616+272C>T	NP_003978.3:n.616+272C>T
NM_003987.5:c.616+272C>T	NP_003978.3:n.616+272C>T
NM_003988.3:c.616+272C>T	NP_003979.2:n.616+272C>T
NM_003988.4:c.616+272C>T	NP_003979.2:n.616+272C>T
NM_003988.5:c.616+272C>T	NP_003979.2:n.616+272C>T
NM_003989.3:c.616+272C>T	NP_003980.2:n.616+272C>T
NM_003989.4:c.616+272C>T	NP_003980.3:n.616+272C>T
NM_003989.5:c.616+272C>T	NP_003980.3:n.616+272C>T
NM_003990.3:c.616+272C>T	NP_003981.2:n.616+272C>T
NM_003990.4:c.616+272C>T	NP_003981.3:n.616+272C>T
NM_003990.5:c.616+272C>T	NP_003981.3:n.616+272C>T
ENST00000355243.7:c.616+272C>T	ENSP00000347385.2:n.616+272C>T
ENST00000361791.7:c.613+272C>T	ENSP00000355069.4:n.613+272C>T
ENST00000370296.6:c.616+272C>T	ENSP00000359319.3:n.616+272C>T
ENST00000427256.5:c.616+272C>T	ENSP00000398652.1:n.616+272C>T
ENST00000427256.6:c.616+272C>T	ENSP00000398652.2:n.616+272C>T
ENST00000428433.5:c.616+272C>T	ENSP00000396259.1:n.616+272C>T
ENST00000553492.5:n.337+272C>T
ENST00000554172.2:c.604+296C>T	ENSP00000452489.2:n.604+296C>T
ENST00000554363.2:n.331+272C>T
ENST00000679374.1:c.598+272C>T	ENSP00000506041.1:n.598+272C>T
ENST00000707078.1:c.709+272C>T	ENSP00000516729.1:n.709+272C>T
ENST00000707079.1:c.616+272C>T	ENSP00000516730.1:n.616+272C>T