Canonical Allele Identifier: CA440268351
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008318-C-A
MyVariant Identifiers: chr4:g.88929470C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008318C>A , CM000666.2:g.88008318C>A GRCh38
NC_000004.11:g.88929470C>A , CM000666.1:g.88929470C>A GRCh37
NC_000004.10:g.89148494C>A NCBI36
NG_008604.1:g.5651C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.585C>A MANE Select ENSP00000237596.2:p.Arg195=
ENST00000237596.6:c.585C>A ENSP00000237596.2:p.Arg195=
ENST00000506727.1:n.87C>A
NM_000297.3:c.585C>A NP_000288.1:p.Arg195=
XM_011532028.1:c.585C>A XP_011530330.1:p.Arg195=
XR_244632.2:n.680C>A
NR_156488.1:n.672C>A
XM_011532028.2:c.585C>A XP_011530330.1:p.Arg195=
NM_000297.4:c.585C>A MANE Select NP_000288.1:p.Arg195=
NR_156488.2:n.684C>A
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