Canonical Allele Identifier: CA1474562028
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1726211803
gnomAD v4: 4-88007638-CGGCGGCGGGCGCCGGGAAGAAAGGAACAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007642_88007670del , CM000666.2:g.88007642_88007670del GRCh38
NC_000004.11:g.88928794_88928822del , CM000666.1:g.88928794_88928822del GRCh37
NC_000004.10:g.89147818_89147846del NCBI36
NG_008604.1:g.4975_5003del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-92_-64del MANE Select ENSP00000237596.2:n.-92_-64del
XR_244632.2:n.4_32del
NM_000297.4:c.-92_-64del MANE Select NP_000288.1:n.-92_-64del
NR_156488.2:n.8_36del
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