Canonical Allele Identifier: CA357626859
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008223-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008223T>C , CM000666.2:g.88008223T>C GRCh38
NC_000004.11:g.88929375T>C , CM000666.1:g.88929375T>C GRCh37
NC_000004.10:g.89148399T>C NCBI36
NG_008604.1:g.5556T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.490T>C MANE Select ENSP00000237596.2:p.Cys164Arg
ENST00000237596.6:c.490T>C ENSP00000237596.2:p.Cys164Arg
NM_000297.3:c.490T>C NP_000288.1:p.Cys164Arg
XM_011532028.1:c.490T>C XP_011530330.1:p.Cys164Arg
XR_244632.2:n.585T>C
NR_156488.1:n.577T>C
XM_011532028.2:c.490T>C XP_011530330.1:p.Cys164Arg
NM_000297.4:c.490T>C MANE Select NP_000288.1:p.Cys164Arg
NR_156488.2:n.589T>C