Canonical Allele Identifier: CA1474562439
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008303_88008305delinsGGA , CM000666.2:g.88008303_88008305delinsGGA GRCh38
NC_000004.11:g.88929455_88929457delinsGGA , CM000666.1:g.88929455_88929457delinsGGA GRCh37
NC_000004.10:g.89148479_89148481delinsGGA NCBI36
NG_008604.1:g.5636_5638delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.570_572delinsGGA MANE Select ENSP00000237596.2:p.Ala190=
ENST00000237596.6:c.570_572delinsGGA ENSP00000237596.2:p.Ala190=
ENST00000506727.1:n.72_74delinsGGA
NM_000297.3:c.570_572delinsGGA NP_000288.1:p.Ala190=
XM_011532028.1:c.570_572delinsGGA XP_011530330.1:p.Ala190=
XR_244632.2:n.665_667delinsGGA
NR_156488.1:n.657_659delinsGGA
XM_011532028.2:c.570_572delinsGGA XP_011530330.1:p.Ala190=
NM_000297.4:c.570_572delinsGGA MANE Select NP_000288.1:p.Ala190=
NR_156488.2:n.669_671delinsGGA
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