Canonical Allele Identifier: CA100873180
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1009444687
gnomAD v2: 4-88929255-A-C
gnomAD v3: 4-88008103-A-C
gnomAD v4: 4-88008103-A-C
MyVariant Identifiers: chr4:g.88929255A>C (hg19) chr4:g.88008103A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008103A>C , CM000666.2:g.88008103A>C GRCh38
NC_000004.11:g.88929255A>C , CM000666.1:g.88929255A>C GRCh37
NC_000004.10:g.89148279A>C NCBI36
NG_008604.1:g.5436A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.370A>C MANE Select ENSP00000237596.2:p.Arg124=
ENST00000237596.6:c.370A>C ENSP00000237596.2:p.Arg124=
NM_000297.3:c.370A>C NP_000288.1:p.Arg124=
XM_011532028.1:c.370A>C XP_011530330.1:p.Arg124=
XR_244632.2:n.465A>C
NR_156488.1:n.457A>C
XM_011532028.2:c.370A>C XP_011530330.1:p.Arg124=
NM_000297.4:c.370A>C MANE Select NP_000288.1:p.Arg124=
NR_156488.2:n.469A>C
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