Canonical Allele Identifier: CA595645715

Gene: PAX2

Linked Data

• dbSNP Id: rs1014637726
• gnomAD v2: 10-102509431-G-T
• gnomAD v4: 10-100749674-G-T
• MyVariant Identifiers: chr10:g.102509431G>T (hg19) ; chr10:g.100749674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749674G>T , CM000672.2:g.100749674G>T	GRCh38
NC_000010.10:g.102509431G>T , CM000672.1:g.102509431G>T	GRCh37
NC_000010.9:g.102499421G>T	NCBI36
NG_008680.1:g.8964G>T
NG_008680.2:g.18966G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.137-72G>T	ENSP00000516729.1:n.137-72G>T
ENST00000707079.1:c.44-72G>T	ENSP00000516730.1:n.44-72G>T
ENST00000355243.8:c.44-72G>T MANE Select	ENSP00000347385.3:n.44-72G>T
ENST00000427256.6:c.44-72G>T	ENSP00000398652.2:n.44-72G>T
ENST00000679374.1:c.26-72G>T	ENSP00000506041.1:n.26-72G>T
ENST00000355243.7:c.44-72G>T	ENSP00000347385.2:n.44-72G>T
ENST00000361791.7:c.44-75G>T	ENSP00000355069.4:n.44-75G>T
ENST00000370296.6:c.44-72G>T	ENSP00000359319.3:n.44-72G>T
ENST00000427256.5:c.44-72G>T	ENSP00000398652.1:n.44-72G>T
ENST00000428433.5:c.44-72G>T	ENSP00000396259.1:n.44-72G>T
ENST00000483202.2:n.1046-72G>T
ENST00000553492.5:n.131+13941G>T
ENST00000554172.2:c.-17G>T	ENSP00000452489.2:n.-17G>T
ENST00000554363.2:n.125+3371G>T
NM_000278.3:c.44-72G>T	NP_000269.2:n.44-72G>T
NM_001304569.1:c.137-72G>T	NP_001291498.1:n.137-72G>T
NM_003987.3:c.44-72G>T	NP_003978.2:n.44-72G>T
NM_003988.3:c.44-72G>T	NP_003979.2:n.44-72G>T
NM_003989.3:c.44-72G>T	NP_003980.2:n.44-72G>T
NM_003990.3:c.44-72G>T	NP_003981.2:n.44-72G>T
NM_000278.4:c.44-72G>T	NP_000269.3:n.44-72G>T
NM_003987.4:c.44-72G>T	NP_003978.3:n.44-72G>T
NM_003988.4:c.44-72G>T	NP_003979.2:n.44-72G>T
NM_003989.4:c.44-72G>T	NP_003980.3:n.44-72G>T
NM_003990.4:c.44-72G>T	NP_003981.3:n.44-72G>T
NM_000278.5:c.44-72G>T MANE Select	NP_000269.3:n.44-72G>T
NM_001304569.2:c.137-72G>T	NP_001291498.1:n.137-72G>T
NM_003987.5:c.44-72G>T	NP_003978.3:n.44-72G>T
NM_003988.5:c.44-72G>T	NP_003979.2:n.44-72G>T
NM_003989.5:c.44-72G>T	NP_003980.3:n.44-72G>T
NM_003990.5:c.44-72G>T	NP_003981.3:n.44-72G>T