Canonical Allele Identifier: CA233182

Gene: PAX2

Linked Data

• ClinVar Variation Id: 156301
• ClinVar RCV Id: RCV000144385 ; RCV000504921 ; RCV001085420 ; RCV004544325
• dbSNP Id: rs78738655
• ExAC: 10:102584417 C / T
• gnomAD v2: 10-102584417-C-T
• gnomAD v3: 10-100824660-C-T
• gnomAD v4: 10-100824660-C-T
• MyVariant Identifiers: chr10:g.102584417C>T (hg19) ; chr10:g.100824660C>T (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100824660C>T , CM000672.2:g.100824660C>T	GRCh38
NC_000010.10:g.102584417C>T , CM000672.1:g.102584417C>T	GRCh37
NC_000010.9:g.102574407C>T	NCBI36
NG_008680.1:g.83950C>T
NG_008680.2:g.93952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.1025C>T	ENSP00000516729.1:p.Ala342Val
ENST00000707079.1:c.1001C>T	ENSP00000516730.1:p.Ala334Val
ENST00000355243.8:c.932C>T MANE Select	ENSP00000347385.3:p.Ala311Val
ENST00000427256.6:c.932C>T	ENSP00000398652.2:p.Ala311Val
ENST00000679374.1:c.914C>T	ENSP00000506041.1:p.Ala305Val
ENST00000355243.7:c.932C>T	ENSP00000347385.2:p.Ala311Val
ENST00000361791.7:c.929C>T	ENSP00000355069.4:p.Ala310Val
ENST00000370296.6:c.932C>T	ENSP00000359319.3:p.Ala311Val
ENST00000428433.5:c.1001C>T	ENSP00000396259.1:p.Ala334Val
NM_000278.3:c.932C>T	NP_000269.2:p.Ala311Val
NM_001304569.1:c.1025C>T	NP_001291498.1:p.Ala342Val
NM_003987.3:c.1001C>T	NP_003978.2:p.Ala334Val
NM_003988.3:c.932C>T	NP_003979.2:p.Ala311Val
NM_003989.3:c.932C>T	NP_003980.2:p.Ala311Val
NM_003990.3:c.1001C>T	NP_003981.2:p.Ala334Val
NM_000278.4:c.932C>T	NP_000269.3:p.Ala311Val
NM_003987.4:c.1001C>T	NP_003978.3:p.Ala334Val
NM_003988.4:c.932C>T	NP_003979.2:p.Ala311Val
NM_003989.4:c.932C>T	NP_003980.3:p.Ala311Val
NM_003990.4:c.1001C>T	NP_003981.3:p.Ala334Val
NM_000278.5:c.932C>T MANE Select	NP_000269.3:p.Ala311Val
NM_001304569.2:c.1025C>T	NP_001291498.1:p.Ala342Val
NM_003987.5:c.1001C>T	NP_003978.3:p.Ala334Val
NM_003988.5:c.932C>T	NP_003979.2:p.Ala311Val
NM_003989.5:c.932C>T	NP_003980.3:p.Ala311Val
NM_003990.5:c.1001C>T	NP_003981.3:p.Ala334Val