Canonical Allele Identifier: CA5650891

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100809232G>C , CM000672.2:g.100809232G>C	GRCh38
NC_000010.10:g.102568989G>C , CM000672.1:g.102568989G>C	GRCh37
NC_000010.9:g.102558979G>C	NCBI36
NG_008680.1:g.68522G>C
NG_008680.2:g.78524G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000278.5:c.915G>C MANE Select	NP_000269.3:p.Val305=
ENST00000355243.8:c.915G>C MANE Select	ENSP00000347385.3:p.Val305=
NM_000278.3:c.915G>C	NP_000269.2:p.Val305=
NM_000278.4:c.915G>C	NP_000269.3:p.Val305=
NM_001304569.1:c.1008G>C	NP_001291498.1:p.Val336=
NM_001304569.2:c.1008G>C	NP_001291498.1:p.Val336=
NM_003987.3:c.984G>C	NP_003978.2:p.Val328=
NM_003987.4:c.984G>C	NP_003978.3:p.Val328=
NM_003987.5:c.984G>C	NP_003978.3:p.Val328=
NM_003988.3:c.915G>C	NP_003979.2:p.Val305=
NM_003988.4:c.915G>C	NP_003979.2:p.Val305=
NM_003988.5:c.915G>C	NP_003979.2:p.Val305=
NM_003989.3:c.915G>C	NP_003980.2:p.Val305=
NM_003989.4:c.915G>C	NP_003980.3:p.Val305=
NM_003989.5:c.915G>C	NP_003980.3:p.Val305=
NM_003990.3:c.984G>C	NP_003981.2:p.Val328=
NM_003990.4:c.984G>C	NP_003981.3:p.Val328=
NM_003990.5:c.984G>C	NP_003981.3:p.Val328=
ENST00000355243.7:c.915G>C	ENSP00000347385.2:p.Val305=
ENST00000361791.7:c.912G>C	ENSP00000355069.4:p.Val304=
ENST00000370296.6:c.915G>C	ENSP00000359319.3:p.Val305=
ENST00000427256.6:c.915G>C	ENSP00000398652.2:p.Val305=
ENST00000428433.5:c.984G>C	ENSP00000396259.1:p.Val328=
ENST00000554172.2:c.903G>C	ENSP00000452489.2:p.Val301=
ENST00000679374.1:c.897G>C	ENSP00000506041.1:p.Val299=
ENST00000707078.1:c.1008G>C	ENSP00000516729.1:p.Val336=
ENST00000707079.1:c.984G>C	ENSP00000516730.1:p.Val328=