Canonical Allele Identifier: CA552866309
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1560591780
gnomAD v2: 4-88928938-CG-C
gnomAD v4: 4-88007786-CG-C
MyVariant Identifiers: chr4:g.88928939del (hg19) chr4:g.88007787del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007787del , CM000666.2:g.88007787del GRCh38
NC_000004.11:g.88928939del , CM000666.1:g.88928939del GRCh37
NC_000004.10:g.89147963del NCBI36
NG_008604.1:g.5120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.54del MANE Select ENSP00000237596.2:p.Ala20ArgfsTer10
ENST00000237596.6:c.54del ENSP00000237596.2:p.Ala20ArgfsTer10
NM_000297.3:c.54del NP_000288.1:p.Ala20ArgfsTer10
XM_011532028.1:c.54del XP_011530330.1:p.Ala20ArgfsTer10
XR_244632.2:n.149del
NR_156488.1:n.141del
XM_011532028.2:c.54del XP_011530330.1:p.Ala20ArgfsTer10
NM_000297.4:c.54del MANE Select NP_000288.1:p.Ala20ArgfsTer10
NR_156488.2:n.153del
Search 100 bp 5'
Search 100 bp 3'