Canonical Allele Identifier: CA233174

Gene: PAX2

Linked Data

• ClinVar Variation Id: 156297
• ClinVar RCV Id: RCV000014806 ; RCV000144381 ; RCV000587907 ; RCV001068182 ; RCV001328165 ; RCV001849315 ; RCV004532628
• dbSNP Id: rs75462234
• ExAC: 10:102509528 C / CG
• gnomAD v2: 10-102509528-C-CG
• gnomAD v4: 10-100749771-C-CG
• COSMIC: COSM2058053 ; COSM2058054
• MyVariant Identifiers: chr10:g.102509535dupG (hg19) ; chr10:g.102509528_102509529insG (hg19) ; chr10:g.100749778dupG (hg38) ; chr10:g.100749771_100749772insG (hg38)
• PubMed: PMID:3377002 ; PMID:8589702 ; PMID:9106533 ; PMID:11093271 ; PMID:11241473 ; PMID:20301624 ; PMID:22213154

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749778dup , CM000672.2:g.100749778dup	GRCh38
NC_000010.10:g.102509535dup , CM000672.1:g.102509535dup	GRCh37
NC_000010.9:g.102499525dup	NCBI36
NG_008680.1:g.9068dup
NG_008680.2:g.19070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.169dup	ENSP00000516729.1:p.Val57GlyfsTer28
ENST00000707079.1:c.76dup	ENSP00000516730.1:p.Val26GlyfsTer28
ENST00000355243.8:c.76dup MANE Select	ENSP00000347385.3:p.Val26GlyfsTer28
ENST00000427256.6:c.76dup	ENSP00000398652.2:p.Val26GlyfsTer28
ENST00000679374.1:c.58dup	ENSP00000506041.1:p.Val20GlyfsTer28
ENST00000355243.7:c.76dup	ENSP00000347385.2:p.Val26GlyfsTer28
ENST00000361791.7:c.73dup	ENSP00000355069.4:p.Val25GlyfsTer28
ENST00000370296.6:c.76dup	ENSP00000359319.3:p.Val26GlyfsTer28
ENST00000427256.5:c.76dup	ENSP00000398652.1:p.Val26GlyfsTer28
ENST00000428433.5:c.76dup	ENSP00000396259.1:p.Val26GlyfsTer28
ENST00000483202.2:n.1078dup
ENST00000553492.5:n.131+14045dup
ENST00000554172.2:c.88dup	ENSP00000452489.2:p.Val30GlyfsTer28
ENST00000554363.2:n.125+3475dup
NM_000278.3:c.76dup	NP_000269.2:p.Val26GlyfsTer28
NM_001304569.1:c.169dup	NP_001291498.1:p.Val57GlyfsTer28
NM_003987.3:c.76dup	NP_003978.2:p.Val26GlyfsTer28
NM_003988.3:c.76dup	NP_003979.2:p.Val26GlyfsTer28
NM_003989.3:c.76dup	NP_003980.2:p.Val26GlyfsTer28
NM_003990.3:c.76dup	NP_003981.2:p.Val26GlyfsTer28
NM_000278.4:c.76dup	NP_000269.3:p.Val26GlyfsTer28
NM_003987.4:c.76dup	NP_003978.3:p.Val26GlyfsTer28
NM_003988.4:c.76dup	NP_003979.2:p.Val26GlyfsTer28
NM_003989.4:c.76dup	NP_003980.3:p.Val26GlyfsTer28
NM_003990.4:c.76dup	NP_003981.3:p.Val26GlyfsTer28
NM_000278.5:c.76dup MANE Select	NP_000269.3:p.Val26GlyfsTer28
NM_001304569.2:c.169dup	NP_001291498.1:p.Val57GlyfsTer28
NM_003987.5:c.76dup	NP_003978.3:p.Val26GlyfsTer28
NM_003988.5:c.76dup	NP_003979.2:p.Val26GlyfsTer28
NM_003989.5:c.76dup	NP_003980.3:p.Val26GlyfsTer28
NM_003990.5:c.76dup	NP_003981.3:p.Val26GlyfsTer28