Canonical Allele Identifier: CA471216062

Gene: PAX2

Linked Data

• ClinVar Variation Id: 2940263
• ClinVar RCV Id: RCV003797621
• dbSNP Id: rs1845371396
• gnomAD v4: 10-100749906-C-T
• MyVariant Identifiers: chr10:g.102509663C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749906C>T , CM000672.2:g.100749906C>T	GRCh38
NC_000010.10:g.102509663C>T , CM000672.1:g.102509663C>T	GRCh37
NC_000010.9:g.102499653C>T	NCBI36
NG_008680.1:g.9196C>T
NG_008680.2:g.19198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.297C>T	ENSP00000516729.1:p.Ile99=
ENST00000707079.1:c.204C>T	ENSP00000516730.1:p.Ile68=
ENST00000355243.8:c.204C>T MANE Select	ENSP00000347385.3:p.Ile68=
ENST00000427256.6:c.204C>T	ENSP00000398652.2:p.Ile68=
ENST00000679374.1:c.186C>T	ENSP00000506041.1:p.Ile62=
ENST00000355243.7:c.204C>T	ENSP00000347385.2:p.Ile68=
ENST00000361791.7:c.201C>T	ENSP00000355069.4:p.Ile67=
ENST00000370296.6:c.204C>T	ENSP00000359319.3:p.Ile68=
ENST00000427256.5:c.204C>T	ENSP00000398652.1:p.Ile68=
ENST00000428433.5:c.204C>T	ENSP00000396259.1:p.Ile68=
ENST00000483202.2:n.1206C>T
ENST00000553492.5:n.131+14173C>T
ENST00000554172.2:c.216C>T	ENSP00000452489.2:p.Ile72=
ENST00000554363.2:n.125+3603C>T
NM_000278.3:c.204C>T	NP_000269.2:p.Ile68=
NM_001304569.1:c.297C>T	NP_001291498.1:p.Ile99=
NM_003987.3:c.204C>T	NP_003978.2:p.Ile68=
NM_003988.3:c.204C>T	NP_003979.2:p.Ile68=
NM_003989.3:c.204C>T	NP_003980.2:p.Ile68=
NM_003990.3:c.204C>T	NP_003981.2:p.Ile68=
NM_000278.4:c.204C>T	NP_000269.3:p.Ile68=
NM_003987.4:c.204C>T	NP_003978.3:p.Ile68=
NM_003988.4:c.204C>T	NP_003979.2:p.Ile68=
NM_003989.4:c.204C>T	NP_003980.3:p.Ile68=
NM_003990.4:c.204C>T	NP_003981.3:p.Ile68=
NM_000278.5:c.204C>T MANE Select	NP_000269.3:p.Ile68=
NM_001304569.2:c.297C>T	NP_001291498.1:p.Ile99=
NM_003987.5:c.204C>T	NP_003978.3:p.Ile68=
NM_003988.5:c.204C>T	NP_003979.2:p.Ile68=
NM_003989.5:c.204C>T	NP_003980.3:p.Ile68=
NM_003990.5:c.204C>T	NP_003981.3:p.Ile68=