Canonical Allele Identifier: CA2578140333
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007648-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007648C>A , CM000666.2:g.88007648C>A GRCh38
NC_000004.11:g.88928800C>A , CM000666.1:g.88928800C>A GRCh37
NC_000004.10:g.89147824C>A NCBI36
NG_008604.1:g.4981C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-86C>A MANE Select ENSP00000237596.2:n.-86C>A
NM_000297.3:c.-86C>A NP_000288.1:n.-86C>A
XM_011532028.1:c.-86C>A XP_011530330.1:n.-86C>A
XR_244632.2:n.10C>A
NR_156488.1:n.2C>A
NM_000297.4:c.-86C>A MANE Select NP_000288.1:n.-86C>A
NR_156488.2:n.14C>A
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