Canonical Allele Identifier: CA471216083

Gene: PAX2

Linked Data

• dbSNP Id: rs755604378
• gnomAD v2: 10-102510463-C-A
• gnomAD v4: 10-100750706-C-A
• MyVariant Identifiers: chr10:g.102510463C>A (hg19) ; chr10:g.100750706C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100750706C>A , CM000672.2:g.100750706C>A	GRCh38
NC_000010.10:g.102510463C>A , CM000672.1:g.102510463C>A	GRCh37
NC_000010.9:g.102500453C>A	NCBI36
NG_008680.1:g.9996C>A
NG_008680.2:g.19998C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.318C>A	ENSP00000516729.1:p.Thr106=
ENST00000707079.1:c.225C>A	ENSP00000516730.1:p.Thr75=
ENST00000355243.8:c.225C>A MANE Select	ENSP00000347385.3:p.Thr75=
ENST00000427256.6:c.225C>A	ENSP00000398652.2:p.Thr75=
ENST00000679374.1:c.207C>A	ENSP00000506041.1:p.Thr69=
ENST00000355243.7:c.225C>A	ENSP00000347385.2:p.Thr75=
ENST00000361791.7:c.222C>A	ENSP00000355069.4:p.Thr74=
ENST00000370296.6:c.225C>A	ENSP00000359319.3:p.Thr75=
ENST00000427256.5:c.225C>A	ENSP00000398652.1:p.Thr75=
ENST00000428433.5:c.225C>A	ENSP00000396259.1:p.Thr75=
ENST00000553492.5:n.131+14973C>A
ENST00000554172.2:c.237C>A	ENSP00000452489.2:p.Thr79=
ENST00000554363.2:n.125+4403C>A
NM_000278.3:c.225C>A	NP_000269.2:p.Thr75=
NM_001304569.1:c.318C>A	NP_001291498.1:p.Thr106=
NM_003987.3:c.225C>A	NP_003978.2:p.Thr75=
NM_003988.3:c.225C>A	NP_003979.2:p.Thr75=
NM_003989.3:c.225C>A	NP_003980.2:p.Thr75=
NM_003990.3:c.225C>A	NP_003981.2:p.Thr75=
NM_000278.4:c.225C>A	NP_000269.3:p.Thr75=
NM_003987.4:c.225C>A	NP_003978.3:p.Thr75=
NM_003988.4:c.225C>A	NP_003979.2:p.Thr75=
NM_003989.4:c.225C>A	NP_003980.3:p.Thr75=
NM_003990.4:c.225C>A	NP_003981.3:p.Thr75=
NM_000278.5:c.225C>A MANE Select	NP_000269.3:p.Thr75=
NM_001304569.2:c.318C>A	NP_001291498.1:p.Thr106=
NM_003987.5:c.225C>A	NP_003978.3:p.Thr75=
NM_003988.5:c.225C>A	NP_003979.2:p.Thr75=
NM_003989.5:c.225C>A	NP_003980.3:p.Thr75=
NM_003990.5:c.225C>A	NP_003981.3:p.Thr75=