Canonical Allele Identifier: CA5650763

Gene: PAX2

Linked Data

• ClinVar Variation Id: 862725
• ClinVar RCV Id: RCV001069506 ; RCV001196043 ; RCV001253271
• dbSNP Id: rs767995614
• ExAC: 10:102541069 A / G
• gnomAD v2: 10-102541069-A-G
• gnomAD v3: 10-100781312-A-G
• gnomAD v4: 10-100781312-A-G
• MyVariant Identifiers: chr10:g.102541069A>G (hg19) ; chr10:g.100781312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100781312A>G , CM000672.2:g.100781312A>G	GRCh38
NC_000010.10:g.102541069A>G , CM000672.1:g.102541069A>G	GRCh37
NC_000010.9:g.102531059A>G	NCBI36
NG_008680.1:g.40602A>G
NG_008680.2:g.50604A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.656A>G	ENSP00000516729.1:p.Asn219Ser
ENST00000707079.1:c.563A>G	ENSP00000516730.1:p.Asn188Ser
ENST00000355243.8:c.563A>G MANE Select	ENSP00000347385.3:p.Asn188Ser
ENST00000427256.6:c.563A>G	ENSP00000398652.2:p.Asn188Ser
ENST00000679374.1:c.545A>G	ENSP00000506041.1:p.Asn182Ser
ENST00000355243.7:c.563A>G	ENSP00000347385.2:p.Asn188Ser
ENST00000361791.7:c.560A>G	ENSP00000355069.4:p.Asn187Ser
ENST00000370296.6:c.563A>G	ENSP00000359319.3:p.Asn188Ser
ENST00000427256.5:c.563A>G	ENSP00000398652.1:p.Asn188Ser
ENST00000428433.5:c.563A>G	ENSP00000396259.1:p.Asn188Ser
ENST00000553492.5:n.284A>G
ENST00000554172.2:c.575A>G	ENSP00000452489.2:p.Asn192Ser
ENST00000554363.2:n.278A>G
NM_000278.3:c.563A>G	NP_000269.2:p.Asn188Ser
NM_001304569.1:c.656A>G	NP_001291498.1:p.Asn219Ser
NM_003987.3:c.563A>G	NP_003978.2:p.Asn188Ser
NM_003988.3:c.563A>G	NP_003979.2:p.Asn188Ser
NM_003989.3:c.563A>G	NP_003980.2:p.Asn188Ser
NM_003990.3:c.563A>G	NP_003981.2:p.Asn188Ser
NM_000278.4:c.563A>G	NP_000269.3:p.Asn188Ser
NM_003987.4:c.563A>G	NP_003978.3:p.Asn188Ser
NM_003988.4:c.563A>G	NP_003979.2:p.Asn188Ser
NM_003989.4:c.563A>G	NP_003980.3:p.Asn188Ser
NM_003990.4:c.563A>G	NP_003981.3:p.Asn188Ser
NM_000278.5:c.563A>G MANE Select	NP_000269.3:p.Asn188Ser
NM_001304569.2:c.656A>G	NP_001291498.1:p.Asn219Ser
NM_003987.5:c.563A>G	NP_003978.3:p.Asn188Ser
NM_003988.5:c.563A>G	NP_003979.2:p.Asn188Ser
NM_003989.5:c.563A>G	NP_003980.3:p.Asn188Ser
NM_003990.5:c.563A>G	NP_003981.3:p.Asn188Ser