Canonical Allele Identifier: CA5650800

Gene: PAX2

Linked Data

• ClinVar Variation Id: 419700
• ClinVar RCV Id: RCV000483686 ; RCV002489149
• dbSNP Id: rs747453876
• ExAC: 10:102546770 T / C
• gnomAD v2: 10-102546770-T-C
• gnomAD v3: 10-100787013-T-C
• gnomAD v4: 10-100787013-T-C
• MyVariant Identifiers: chr10:g.102546770T>C (hg19) ; chr10:g.100787013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100787013T>C , CM000672.2:g.100787013T>C	GRCh38
NC_000010.10:g.102546770T>C , CM000672.1:g.102546770T>C	GRCh37
NC_000010.9:g.102536760T>C	NCBI36
NG_008680.1:g.46303T>C
NG_008680.2:g.56305T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.709+5648T>C	ENSP00000516729.1:n.709+5648T>C
ENST00000707079.1:c.685+2T>C	ENSP00000516730.1:n.685+2T>C
ENST00000355243.8:c.616+5648T>C MANE Select	ENSP00000347385.3:n.616+5648T>C
ENST00000427256.6:c.616+5648T>C	ENSP00000398652.2:n.616+5648T>C
ENST00000679374.1:c.598+5648T>C	ENSP00000506041.1:n.598+5648T>C
ENST00000355243.7:c.616+5648T>C	ENSP00000347385.2:n.616+5648T>C
ENST00000361791.7:c.613+5648T>C	ENSP00000355069.4:n.613+5648T>C
ENST00000370296.6:c.616+5648T>C	ENSP00000359319.3:n.616+5648T>C
ENST00000428433.5:c.685+2T>C	ENSP00000396259.1:n.685+2T>C
ENST00000553492.5:n.337+5648T>C
ENST00000554172.2:c.604+5672T>C	ENSP00000452489.2:n.604+5672T>C
ENST00000554363.2:n.331+5648T>C
NM_000278.3:c.616+5648T>C	NP_000269.2:n.616+5648T>C
NM_001304569.1:c.709+5648T>C	NP_001291498.1:n.709+5648T>C
NM_003987.3:c.685+2T>C	NP_003978.2:n.685+2T>C
NM_003988.3:c.616+5648T>C	NP_003979.2:n.616+5648T>C
NM_003989.3:c.616+5648T>C	NP_003980.2:n.616+5648T>C
NM_003990.3:c.685+2T>C	NP_003981.2:n.685+2T>C
NM_000278.4:c.616+5648T>C	NP_000269.3:n.616+5648T>C
NM_003987.4:c.685+2T>C	NP_003978.3:n.685+2T>C
NM_003988.4:c.616+5648T>C	NP_003979.2:n.616+5648T>C
NM_003989.4:c.616+5648T>C	NP_003980.3:n.616+5648T>C
NM_003990.4:c.685+2T>C	NP_003981.3:n.685+2T>C
NM_000278.5:c.616+5648T>C MANE Select	NP_000269.3:n.616+5648T>C
NM_001304569.2:c.709+5648T>C	NP_001291498.1:n.709+5648T>C
NM_003987.5:c.685+2T>C	NP_003978.3:n.685+2T>C
NM_003988.5:c.616+5648T>C	NP_003979.2:n.616+5648T>C
NM_003989.5:c.616+5648T>C	NP_003980.3:n.616+5648T>C
NM_003990.5:c.685+2T>C	NP_003981.3:n.685+2T>C