Canonical Allele Identifier: CA378257578

Gene: PAX2

Linked Data

• ClinVar Variation Id: 2444301
• ClinVar RCV Id: RCV003153099
• MyVariant Identifiers: chr10:g.102509584T>C (hg19) ; chr10:g.100749827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749827T>C , CM000672.2:g.100749827T>C	GRCh38
NC_000010.10:g.102509584T>C , CM000672.1:g.102509584T>C	GRCh37
NC_000010.9:g.102499574T>C	NCBI36
NG_008680.1:g.9117T>C
NG_008680.2:g.19119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.218T>C	ENSP00000516729.1:p.Val73Ala
ENST00000707079.1:c.125T>C	ENSP00000516730.1:p.Val42Ala
ENST00000355243.8:c.125T>C MANE Select	ENSP00000347385.3:p.Val42Ala
ENST00000427256.6:c.125T>C	ENSP00000398652.2:p.Val42Ala
ENST00000679374.1:c.107T>C	ENSP00000506041.1:p.Val36Ala
ENST00000355243.7:c.125T>C	ENSP00000347385.2:p.Val42Ala
ENST00000361791.7:c.122T>C	ENSP00000355069.4:p.Val41Ala
ENST00000370296.6:c.125T>C	ENSP00000359319.3:p.Val42Ala
ENST00000427256.5:c.125T>C	ENSP00000398652.1:p.Val42Ala
ENST00000428433.5:c.125T>C	ENSP00000396259.1:p.Val42Ala
ENST00000483202.2:n.1127T>C
ENST00000553492.5:n.131+14094T>C
ENST00000554172.2:c.137T>C	ENSP00000452489.2:p.Val46Ala
ENST00000554363.2:n.125+3524T>C
NM_000278.3:c.125T>C	NP_000269.2:p.Val42Ala
NM_001304569.1:c.218T>C	NP_001291498.1:p.Val73Ala
NM_003987.3:c.125T>C	NP_003978.2:p.Val42Ala
NM_003988.3:c.125T>C	NP_003979.2:p.Val42Ala
NM_003989.3:c.125T>C	NP_003980.2:p.Val42Ala
NM_003990.3:c.125T>C	NP_003981.2:p.Val42Ala
NM_000278.4:c.125T>C	NP_000269.3:p.Val42Ala
NM_003987.4:c.125T>C	NP_003978.3:p.Val42Ala
NM_003988.4:c.125T>C	NP_003979.2:p.Val42Ala
NM_003989.4:c.125T>C	NP_003980.3:p.Val42Ala
NM_003990.4:c.125T>C	NP_003981.3:p.Val42Ala
NM_000278.5:c.125T>C MANE Select	NP_000269.3:p.Val42Ala
NM_001304569.2:c.218T>C	NP_001291498.1:p.Val73Ala
NM_003987.5:c.125T>C	NP_003978.3:p.Val42Ala
NM_003988.5:c.125T>C	NP_003979.2:p.Val42Ala
NM_003989.5:c.125T>C	NP_003980.3:p.Val42Ala
NM_003990.5:c.125T>C	NP_003981.3:p.Val42Ala