Canonical Allele Identifier: CA378257476

Gene: PAX2

Linked Data

• ClinVar Variation Id: 1409546
• ClinVar RCV Id: RCV001913759
• dbSNP Id: rs1022509510
• gnomAD v4: 10-100749778-G-T
• MyVariant Identifiers: chr10:g.102509535G>T (hg19) ; chr10:g.100749778G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749778G>T , CM000672.2:g.100749778G>T	GRCh38
NC_000010.10:g.102509535G>T , CM000672.1:g.102509535G>T	GRCh37
NC_000010.9:g.102499525G>T	NCBI36
NG_008680.1:g.9068G>T
NG_008680.2:g.19070G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.169G>T	ENSP00000516729.1:p.Val57Leu
ENST00000707079.1:c.76G>T	ENSP00000516730.1:p.Val26Leu
ENST00000355243.8:c.76G>T MANE Select	ENSP00000347385.3:p.Val26Leu
ENST00000427256.6:c.76G>T	ENSP00000398652.2:p.Val26Leu
ENST00000679374.1:c.58G>T	ENSP00000506041.1:p.Val20Leu
ENST00000355243.7:c.76G>T	ENSP00000347385.2:p.Val26Leu
ENST00000361791.7:c.73G>T	ENSP00000355069.4:p.Val25Leu
ENST00000370296.6:c.76G>T	ENSP00000359319.3:p.Val26Leu
ENST00000427256.5:c.76G>T	ENSP00000398652.1:p.Val26Leu
ENST00000428433.5:c.76G>T	ENSP00000396259.1:p.Val26Leu
ENST00000483202.2:n.1078G>T
ENST00000553492.5:n.131+14045G>T
ENST00000554172.2:c.88G>T	ENSP00000452489.2:p.Val30Leu
ENST00000554363.2:n.125+3475G>T
NM_000278.3:c.76G>T	NP_000269.2:p.Val26Leu
NM_001304569.1:c.169G>T	NP_001291498.1:p.Val57Leu
NM_003987.3:c.76G>T	NP_003978.2:p.Val26Leu
NM_003988.3:c.76G>T	NP_003979.2:p.Val26Leu
NM_003989.3:c.76G>T	NP_003980.2:p.Val26Leu
NM_003990.3:c.76G>T	NP_003981.2:p.Val26Leu
NM_000278.4:c.76G>T	NP_000269.3:p.Val26Leu
NM_003987.4:c.76G>T	NP_003978.3:p.Val26Leu
NM_003988.4:c.76G>T	NP_003979.2:p.Val26Leu
NM_003989.4:c.76G>T	NP_003980.3:p.Val26Leu
NM_003990.4:c.76G>T	NP_003981.3:p.Val26Leu
NM_000278.5:c.76G>T MANE Select	NP_000269.3:p.Val26Leu
NM_001304569.2:c.169G>T	NP_001291498.1:p.Val57Leu
NM_003987.5:c.76G>T	NP_003978.3:p.Val26Leu
NM_003988.5:c.76G>T	NP_003979.2:p.Val26Leu
NM_003989.5:c.76G>T	NP_003980.3:p.Val26Leu
NM_003990.5:c.76G>T	NP_003981.3:p.Val26Leu