Canonical Allele Identifier: CA5650823

Gene: PAX2

Linked Data

• ClinVar Variation Id: 424189
• ClinVar RCV Id: RCV000482076 ; RCV001865489 ; RCV003243144
• dbSNP Id: rs148402788
• ExAC: 10:102566211 A / G
• gnomAD v2: 10-102566211-A-G
• gnomAD v3: 10-100806454-A-G
• gnomAD v4: 10-100806454-A-G
• MyVariant Identifiers: chr10:g.102566211A>G (hg19) ; chr10:g.100806454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100806454A>G , CM000672.2:g.100806454A>G	GRCh38
NC_000010.10:g.102566211A>G , CM000672.1:g.102566211A>G	GRCh37
NC_000010.9:g.102556201A>G	NCBI36
NG_008680.1:g.65744A>G
NG_008680.2:g.75746A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.734A>G	ENSP00000516729.1:p.Asn245Ser
ENST00000707079.1:c.710A>G	ENSP00000516730.1:p.Asn237Ser
ENST00000355243.8:c.641A>G MANE Select	ENSP00000347385.3:p.Asn214Ser
ENST00000427256.6:c.641A>G	ENSP00000398652.2:p.Asn214Ser
ENST00000679374.1:c.623A>G	ENSP00000506041.1:p.Asn208Ser
ENST00000355243.7:c.641A>G	ENSP00000347385.2:p.Asn214Ser
ENST00000361791.7:c.638A>G	ENSP00000355069.4:p.Asn213Ser
ENST00000370296.6:c.641A>G	ENSP00000359319.3:p.Asn214Ser
ENST00000428433.5:c.710A>G	ENSP00000396259.1:p.Asn237Ser
ENST00000553492.5:n.362A>G
ENST00000554172.2:c.629A>G	ENSP00000452489.2:p.Asn210Ser
ENST00000554363.2:n.356A>G
NM_000278.3:c.641A>G	NP_000269.2:p.Asn214Ser
NM_001304569.1:c.734A>G	NP_001291498.1:p.Asn245Ser
NM_003987.3:c.710A>G	NP_003978.2:p.Asn237Ser
NM_003988.3:c.641A>G	NP_003979.2:p.Asn214Ser
NM_003989.3:c.641A>G	NP_003980.2:p.Asn214Ser
NM_003990.3:c.710A>G	NP_003981.2:p.Asn237Ser
NM_000278.4:c.641A>G	NP_000269.3:p.Asn214Ser
NM_003987.4:c.710A>G	NP_003978.3:p.Asn237Ser
NM_003988.4:c.641A>G	NP_003979.2:p.Asn214Ser
NM_003989.4:c.641A>G	NP_003980.3:p.Asn214Ser
NM_003990.4:c.710A>G	NP_003981.3:p.Asn237Ser
NM_000278.5:c.641A>G MANE Select	NP_000269.3:p.Asn214Ser
NM_001304569.2:c.734A>G	NP_001291498.1:p.Asn245Ser
NM_003987.5:c.710A>G	NP_003978.3:p.Asn237Ser
NM_003988.5:c.641A>G	NP_003979.2:p.Asn214Ser
NM_003989.5:c.641A>G	NP_003980.3:p.Asn214Ser
NM_003990.5:c.710A>G	NP_003981.3:p.Asn237Ser