Canonical Allele Identifier: CA10575800
Gene: PAX2 HGNC NCBI

Linked Data

dbSNP Id: rs886037754
MyVariant Identifiers: chr10:g.102509578_102509579del (hg19) chr10:g.100749821_100749822del (hg38)
PubMed: PMID:26571382
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100749821_100749822del , CM000672.2:g.100749821_100749822del GRCh38
NC_000010.10:g.102509578_102509579del , CM000672.1:g.102509578_102509579del GRCh37
NC_000010.9:g.102499568_102499569del NCBI36
NG_008680.1:g.9111_9112del
NG_008680.2:g.19113_19114del

Transcript Alleles

HGVS Amino-acid change
ENST00000707078.1:c.212_213del ENSP00000516729.1:p.Arg71HisfsTer13
ENST00000707079.1:c.119_120del ENSP00000516730.1:p.Arg40HisfsTer13
ENST00000355243.8:c.119_120del MANE Select ENSP00000347385.3:p.Arg40HisfsTer13
ENST00000427256.6:c.119_120del ENSP00000398652.2:p.Arg40HisfsTer13
ENST00000679374.1:c.101_102del ENSP00000506041.1:p.Arg34HisfsTer13
ENST00000355243.7:c.119_120del ENSP00000347385.2:p.Arg40HisfsTer13
ENST00000361791.7:c.116_117del ENSP00000355069.4:p.Arg39HisfsTer13
ENST00000370296.6:c.119_120del ENSP00000359319.3:p.Arg40HisfsTer13
ENST00000427256.5:c.119_120del ENSP00000398652.1:p.Arg40HisfsTer13
ENST00000428433.5:c.119_120del ENSP00000396259.1:p.Arg40HisfsTer13
ENST00000483202.2:n.1121_1122del
ENST00000553492.5:n.131+14088_131+14089del
ENST00000554172.2:c.131_132del ENSP00000452489.2:p.Arg44HisfsTer13
ENST00000554363.2:n.125+3518_125+3519del
NM_000278.3:c.119_120del NP_000269.2:p.Arg40HisfsTer13
NM_001304569.1:c.212_213del NP_001291498.1:p.Arg71HisfsTer13
NM_003987.3:c.119_120del NP_003978.2:p.Arg40HisfsTer13
NM_003988.3:c.119_120del NP_003979.2:p.Arg40HisfsTer13
NM_003989.3:c.119_120del NP_003980.2:p.Arg40HisfsTer13
NM_003990.3:c.119_120del NP_003981.2:p.Arg40HisfsTer13
NM_000278.4:c.119_120del NP_000269.3:p.Arg40HisfsTer13
NM_003987.4:c.119_120del NP_003978.3:p.Arg40HisfsTer13
NM_003988.4:c.119_120del NP_003979.2:p.Arg40HisfsTer13
NM_003989.4:c.119_120del NP_003980.3:p.Arg40HisfsTer13
NM_003990.4:c.119_120del NP_003981.3:p.Arg40HisfsTer13
NM_000278.5:c.119_120del MANE Select NP_000269.3:p.Arg40HisfsTer13
NM_001304569.2:c.212_213del NP_001291498.1:p.Arg71HisfsTer13
NM_003987.5:c.119_120del NP_003978.3:p.Arg40HisfsTer13
NM_003988.5:c.119_120del NP_003979.2:p.Arg40HisfsTer13
NM_003989.5:c.119_120del NP_003980.3:p.Arg40HisfsTer13
NM_003990.5:c.119_120del NP_003981.3:p.Arg40HisfsTer13
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