Canonical Allele Identifier: CA378258926

Gene: PAX2

Linked Data

• MyVariant Identifiers: chr10:g.102566223A>C (hg19) ; chr10:g.100806466A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100806466A>C , CM000672.2:g.100806466A>C	GRCh38
NC_000010.10:g.102566223A>C , CM000672.1:g.102566223A>C	GRCh37
NC_000010.9:g.102556213A>C	NCBI36
NG_008680.1:g.65756A>C
NG_008680.2:g.75758A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.746A>C	ENSP00000516729.1:p.Gln249Pro
ENST00000707079.1:c.722A>C	ENSP00000516730.1:p.Gln241Pro
ENST00000355243.8:c.653A>C MANE Select	ENSP00000347385.3:p.Gln218Pro
ENST00000427256.6:c.653A>C	ENSP00000398652.2:p.Gln218Pro
ENST00000679374.1:c.635A>C	ENSP00000506041.1:p.Gln212Pro
ENST00000355243.7:c.653A>C	ENSP00000347385.2:p.Gln218Pro
ENST00000361791.7:c.650A>C	ENSP00000355069.4:p.Gln217Pro
ENST00000370296.6:c.653A>C	ENSP00000359319.3:p.Gln218Pro
ENST00000428433.5:c.722A>C	ENSP00000396259.1:p.Gln241Pro
ENST00000553492.5:n.374A>C
ENST00000554172.2:c.641A>C	ENSP00000452489.2:p.Gln214Pro
ENST00000554363.2:n.368A>C
NM_000278.3:c.653A>C	NP_000269.2:p.Gln218Pro
NM_001304569.1:c.746A>C	NP_001291498.1:p.Gln249Pro
NM_003987.3:c.722A>C	NP_003978.2:p.Gln241Pro
NM_003988.3:c.653A>C	NP_003979.2:p.Gln218Pro
NM_003989.3:c.653A>C	NP_003980.2:p.Gln218Pro
NM_003990.3:c.722A>C	NP_003981.2:p.Gln241Pro
NM_000278.4:c.653A>C	NP_000269.3:p.Gln218Pro
NM_003987.4:c.722A>C	NP_003978.3:p.Gln241Pro
NM_003988.4:c.653A>C	NP_003979.2:p.Gln218Pro
NM_003989.4:c.653A>C	NP_003980.3:p.Gln218Pro
NM_003990.4:c.722A>C	NP_003981.3:p.Gln241Pro
NM_000278.5:c.653A>C MANE Select	NP_000269.3:p.Gln218Pro
NM_001304569.2:c.746A>C	NP_001291498.1:p.Gln249Pro
NM_003987.5:c.722A>C	NP_003978.3:p.Gln241Pro
NM_003988.5:c.653A>C	NP_003979.2:p.Gln218Pro
NM_003989.5:c.653A>C	NP_003980.3:p.Gln218Pro
NM_003990.5:c.722A>C	NP_003981.3:p.Gln241Pro