LDH info

Canonical Allele Identifier: CA256964
Gene: PAX2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13795
ClinVar RCV Id: RCV000014805
dbSNP Id: rs77777862

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100781310del , CM000672.2:g.100781310del GRCh38
NC_000010.10:g.102541067del , CM000672.1:g.102541067del GRCh37
NC_000010.9:g.102531057del NCBI36
NG_008680.1:g.40600del
NG_008680.2:g.50602del

Transcript Alleles

HGVS Amino-acid change
NM_000278.3:c.561del VV NP_000269.2:p.Asn188MetfsTer?
NM_001304569.1:n.654del VV NP_001291498.1:p.Asn219MetfsTer?
NM_003987.3:c.561del VV NP_003978.2:p.Asn188MetfsTer?
NM_003988.3:c.561del VV NP_003979.2:p.Asn188MetfsTer?
NM_003989.3:c.561del VV NP_003980.2:p.Asn188MetfsTer?
NM_003990.3:c.561del VV NP_003981.2:p.Asn188MetfsTer?
NM_000278.4:c.561del VV NP_000269.3:p.Asn188MetfsTer?
NM_003987.4:c.561del VV NP_003978.3:p.Asn188MetfsTer?
NM_003988.4:c.561del VV NP_003979.2:p.Asn188MetfsTer?
NM_003989.4:c.561del VV NP_003980.3:p.Asn188MetfsTer?
NM_003990.4:c.561del VV NP_003981.3:p.Asn188MetfsTer?
ENST00000355243.7:c.561del ENSP00000347385.2:p.Asn188MetfsTer?
ENST00000361791.7:c.558del ENSP00000355069.4:p.Asn187MetfsTer?
ENST00000370296.6:c.561del ENSP00000359319.3:p.Asn188MetfsTer?
ENST00000427256.5:c.561del ENSP00000398652.1:p.Asn188MetfsTer?
ENST00000428433.5:c.561del ENSP00000396259.1:p.Asn188MetfsTer?
ENST00000553492.5:n.282del
ENST00000554172.2:c.573del ENSP00000452489.2:p.Asn192MetfsTer?
ENST00000554363.2:n.276del