Canonical Allele Identifier: CA256976

Gene: PAX2

Linked Data

• ClinVar Variation Id: 13803
• ClinVar RCV Id: RCV000014814 ; RCV001093422
• dbSNP Id: rs78122364
• gnomAD v4: 10-100824682-C-A
• MyVariant Identifiers: chr10:g.102584439C>A (hg19) ; chr10:g.100824682C>A (hg38)
• PubMed: PMID:11461952 ; PMID:22213154

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100824682C>A , CM000672.2:g.100824682C>A	GRCh38
NC_000010.10:g.102584439C>A , CM000672.1:g.102584439C>A	GRCh37
NC_000010.9:g.102574429C>A	NCBI36
NG_008680.1:g.83972C>A
NG_008680.2:g.93974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.1047C>A	ENSP00000516729.1:p.Tyr349Ter
ENST00000707079.1:c.1023C>A	ENSP00000516730.1:p.Tyr341Ter
ENST00000355243.8:c.954C>A MANE Select	ENSP00000347385.3:p.Tyr318Ter
ENST00000427256.6:c.954C>A	ENSP00000398652.2:p.Tyr318Ter
ENST00000679374.1:c.936C>A	ENSP00000506041.1:p.Tyr312Ter
ENST00000355243.7:c.954C>A	ENSP00000347385.2:p.Tyr318Ter
ENST00000361791.7:c.951C>A	ENSP00000355069.4:p.Tyr317Ter
ENST00000370296.6:c.954C>A	ENSP00000359319.3:p.Tyr318Ter
ENST00000428433.5:c.1023C>A	ENSP00000396259.1:p.Tyr341Ter
NM_000278.3:c.954C>A	NP_000269.2:p.Tyr318Ter
NM_001304569.1:c.1047C>A	NP_001291498.1:p.Tyr349Ter
NM_003987.3:c.1023C>A	NP_003978.2:p.Tyr341Ter
NM_003988.3:c.954C>A	NP_003979.2:p.Tyr318Ter
NM_003989.3:c.954C>A	NP_003980.2:p.Tyr318Ter
NM_003990.3:c.1023C>A	NP_003981.2:p.Tyr341Ter
NM_000278.4:c.954C>A	NP_000269.3:p.Tyr318Ter
NM_003987.4:c.1023C>A	NP_003978.3:p.Tyr341Ter
NM_003988.4:c.954C>A	NP_003979.2:p.Tyr318Ter
NM_003989.4:c.954C>A	NP_003980.3:p.Tyr318Ter
NM_003990.4:c.1023C>A	NP_003981.3:p.Tyr341Ter
NM_000278.5:c.954C>A MANE Select	NP_000269.3:p.Tyr318Ter
NM_001304569.2:c.1047C>A	NP_001291498.1:p.Tyr349Ter
NM_003987.5:c.1023C>A	NP_003978.3:p.Tyr341Ter
NM_003988.5:c.954C>A	NP_003979.2:p.Tyr318Ter
NM_003989.5:c.954C>A	NP_003980.3:p.Tyr318Ter
NM_003990.5:c.1023C>A	NP_003981.3:p.Tyr341Ter