Canonical Allele Identifier: CA5650652

Gene: PAX2

Linked Data

• ClinVar Variation Id: 1437935
• ClinVar RCV Id: RCV001934141
• dbSNP Id: rs747639516
• ExAC: 10:102509579 C / T
• gnomAD v2: 10-102509579-C-T
• gnomAD v3: 10-100749822-C-T
• gnomAD v4: 10-100749822-C-T
• MyVariant Identifiers: chr10:g.102509579C>T (hg19) ; chr10:g.100749822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749822C>T , CM000672.2:g.100749822C>T	GRCh38
NC_000010.10:g.102509579C>T , CM000672.1:g.102509579C>T	GRCh37
NC_000010.9:g.102499569C>T	NCBI36
NG_008680.1:g.9112C>T
NG_008680.2:g.19114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.213C>T	ENSP00000516729.1:p.Arg71=
ENST00000707079.1:c.120C>T	ENSP00000516730.1:p.Arg40=
ENST00000355243.8:c.120C>T MANE Select	ENSP00000347385.3:p.Arg40=
ENST00000427256.6:c.120C>T	ENSP00000398652.2:p.Arg40=
ENST00000679374.1:c.102C>T	ENSP00000506041.1:p.Arg34=
ENST00000355243.7:c.120C>T	ENSP00000347385.2:p.Arg40=
ENST00000361791.7:c.117C>T	ENSP00000355069.4:p.Arg39=
ENST00000370296.6:c.120C>T	ENSP00000359319.3:p.Arg40=
ENST00000427256.5:c.120C>T	ENSP00000398652.1:p.Arg40=
ENST00000428433.5:c.120C>T	ENSP00000396259.1:p.Arg40=
ENST00000483202.2:n.1122C>T
ENST00000553492.5:n.131+14089C>T
ENST00000554172.2:c.132C>T	ENSP00000452489.2:p.Arg44=
ENST00000554363.2:n.125+3519C>T
NM_000278.3:c.120C>T	NP_000269.2:p.Arg40=
NM_001304569.1:c.213C>T	NP_001291498.1:p.Arg71=
NM_003987.3:c.120C>T	NP_003978.2:p.Arg40=
NM_003988.3:c.120C>T	NP_003979.2:p.Arg40=
NM_003989.3:c.120C>T	NP_003980.2:p.Arg40=
NM_003990.3:c.120C>T	NP_003981.2:p.Arg40=
NM_000278.4:c.120C>T	NP_000269.3:p.Arg40=
NM_003987.4:c.120C>T	NP_003978.3:p.Arg40=
NM_003988.4:c.120C>T	NP_003979.2:p.Arg40=
NM_003989.4:c.120C>T	NP_003980.3:p.Arg40=
NM_003990.4:c.120C>T	NP_003981.3:p.Arg40=
NM_000278.5:c.120C>T MANE Select	NP_000269.3:p.Arg40=
NM_001304569.2:c.213C>T	NP_001291498.1:p.Arg71=
NM_003987.5:c.120C>T	NP_003978.3:p.Arg40=
NM_003988.5:c.120C>T	NP_003979.2:p.Arg40=
NM_003989.5:c.120C>T	NP_003980.3:p.Arg40=
NM_003990.5:c.120C>T	NP_003981.3:p.Arg40=