Canonical Allele Identifier: CA2695203473
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008130_88008173del , CM000666.2:g.88008130_88008173del GRCh38
NC_000004.11:g.88929282_88929325del , CM000666.1:g.88929282_88929325del GRCh37
NC_000004.10:g.89148306_89148349del NCBI36
NG_008604.1:g.5463_5506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.397_440del MANE Select ENSP00000237596.2:p.Ser133GlyfsTer?
ENST00000237596.6:c.397_440del ENSP00000237596.2:p.Ser133GlyfsTer?
NM_000297.3:c.397_440del NP_000288.1:p.Ser133GlyfsTer?
XM_011532028.1:c.397_440del XP_011530330.1:p.Ser133GlyfsTer?
XR_244632.2:n.492_535del
NR_156488.1:n.484_527del
XM_011532028.2:c.397_440del XP_011530330.1:p.Ser133GlyfsTer?
NM_000297.4:c.397_440del MANE Select NP_000288.1:p.Ser133GlyfsTer?
NR_156488.2:n.496_539del
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