Canonical Allele Identifier: CA100873335
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 702927
ClinVar RCV Id: RCV002539127
dbSNP Id: rs895731667
gnomAD v2: 4-88929416-C-T
gnomAD v3: 4-88008264-C-T
gnomAD v4: 4-88008264-C-T
MyVariant Identifiers: chr4:g.88929416C>T (hg19) chr4:g.88008264C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008264C>T , CM000666.2:g.88008264C>T GRCh38
NC_000004.11:g.88929416C>T , CM000666.1:g.88929416C>T GRCh37
NC_000004.10:g.89148440C>T NCBI36
NG_008604.1:g.5597C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.531C>T MANE Select ENSP00000237596.2:p.His177=
ENST00000237596.6:c.531C>T ENSP00000237596.2:p.His177=
ENST00000506727.1:n.33C>T
NM_000297.3:c.531C>T NP_000288.1:p.His177=
XM_011532028.1:c.531C>T XP_011530330.1:p.His177=
XR_244632.2:n.626C>T
NR_156488.1:n.618C>T
XM_011532028.2:c.531C>T XP_011530330.1:p.His177=
NM_000297.4:c.531C>T MANE Select NP_000288.1:p.His177=
NR_156488.2:n.630C>T
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