Canonical Allele Identifier: CA378257592

Gene: PAX2

Linked Data

• MyVariant Identifiers: chr10:g.102509590T>G (hg19) ; chr10:g.100749833T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749833T>G , CM000672.2:g.100749833T>G	GRCh38
NC_000010.10:g.102509590T>G , CM000672.1:g.102509590T>G	GRCh37
NC_000010.9:g.102499580T>G	NCBI36
NG_008680.1:g.9123T>G
NG_008680.2:g.19125T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.224T>G	ENSP00000516729.1:p.Leu75Arg
ENST00000707079.1:c.131T>G	ENSP00000516730.1:p.Leu44Arg
ENST00000355243.8:c.131T>G MANE Select	ENSP00000347385.3:p.Leu44Arg
ENST00000427256.6:c.131T>G	ENSP00000398652.2:p.Leu44Arg
ENST00000679374.1:c.113T>G	ENSP00000506041.1:p.Leu38Arg
ENST00000355243.7:c.131T>G	ENSP00000347385.2:p.Leu44Arg
ENST00000361791.7:c.128T>G	ENSP00000355069.4:p.Leu43Arg
ENST00000370296.6:c.131T>G	ENSP00000359319.3:p.Leu44Arg
ENST00000427256.5:c.131T>G	ENSP00000398652.1:p.Leu44Arg
ENST00000428433.5:c.131T>G	ENSP00000396259.1:p.Leu44Arg
ENST00000483202.2:n.1133T>G
ENST00000553492.5:n.131+14100T>G
ENST00000554172.2:c.143T>G	ENSP00000452489.2:p.Leu48Arg
ENST00000554363.2:n.125+3530T>G
NM_000278.3:c.131T>G	NP_000269.2:p.Leu44Arg
NM_001304569.1:c.224T>G	NP_001291498.1:p.Leu75Arg
NM_003987.3:c.131T>G	NP_003978.2:p.Leu44Arg
NM_003988.3:c.131T>G	NP_003979.2:p.Leu44Arg
NM_003989.3:c.131T>G	NP_003980.2:p.Leu44Arg
NM_003990.3:c.131T>G	NP_003981.2:p.Leu44Arg
NM_000278.4:c.131T>G	NP_000269.3:p.Leu44Arg
NM_003987.4:c.131T>G	NP_003978.3:p.Leu44Arg
NM_003988.4:c.131T>G	NP_003979.2:p.Leu44Arg
NM_003989.4:c.131T>G	NP_003980.3:p.Leu44Arg
NM_003990.4:c.131T>G	NP_003981.3:p.Leu44Arg
NM_000278.5:c.131T>G MANE Select	NP_000269.3:p.Leu44Arg
NM_001304569.2:c.224T>G	NP_001291498.1:p.Leu75Arg
NM_003987.5:c.131T>G	NP_003978.3:p.Leu44Arg
NM_003988.5:c.131T>G	NP_003979.2:p.Leu44Arg
NM_003989.5:c.131T>G	NP_003980.3:p.Leu44Arg
NM_003990.5:c.131T>G	NP_003981.3:p.Leu44Arg