Canonical Allele Identifier: CA2671365090
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007692-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007692G>C , CM000666.2:g.88007692G>C GRCh38
NC_000004.11:g.88928844G>C , CM000666.1:g.88928844G>C GRCh37
NC_000004.10:g.89147868G>C NCBI36
NG_008604.1:g.5025G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-42G>C MANE Select ENSP00000237596.2:n.-42G>C
ENST00000237596.6:c.-42G>C ENSP00000237596.2:n.-42G>C
NM_000297.3:c.-42G>C NP_000288.1:n.-42G>C
XM_011532028.1:c.-42G>C XP_011530330.1:n.-42G>C
XR_244632.2:n.54G>C
NR_156488.1:n.46G>C
XM_011532028.2:c.-42G>C XP_011530330.1:n.-42G>C
NM_000297.4:c.-42G>C MANE Select NP_000288.1:n.-42G>C
NR_156488.2:n.58G>C
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