Canonical Allele Identifier: CA357624938
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007783-G-C
MyVariant Identifiers: chr4:g.88928935G>C (hg19) chr4:g.88007783G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007783G>C , CM000666.2:g.88007783G>C GRCh38
NC_000004.11:g.88928935G>C , CM000666.1:g.88928935G>C GRCh37
NC_000004.10:g.89147959G>C NCBI36
NG_008604.1:g.5116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.50G>C MANE Select ENSP00000237596.2:p.Arg17Pro
ENST00000237596.6:c.50G>C ENSP00000237596.2:p.Arg17Pro
NM_000297.3:c.50G>C NP_000288.1:p.Arg17Pro
XM_011532028.1:c.50G>C XP_011530330.1:p.Arg17Pro
XR_244632.2:n.145G>C
NR_156488.1:n.137G>C
XM_011532028.2:c.50G>C XP_011530330.1:p.Arg17Pro
NM_000297.4:c.50G>C MANE Select NP_000288.1:p.Arg17Pro
NR_156488.2:n.149G>C
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