Canonical Allele Identifier: CA357626151
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008046G>C , CM000666.2:g.88008046G>C GRCh38
NC_000004.11:g.88929198G>C , CM000666.1:g.88929198G>C GRCh37
NC_000004.10:g.89148222G>C NCBI36
NG_008604.1:g.5379G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.313G>C MANE Select ENSP00000237596.2:p.Gly105Arg
ENST00000237596.6:c.313G>C ENSP00000237596.2:p.Gly105Arg
NM_000297.3:c.313G>C NP_000288.1:p.Gly105Arg
XM_011532028.1:c.313G>C XP_011530330.1:p.Gly105Arg
XR_244632.2:n.408G>C
NR_156488.1:n.400G>C
XM_011532028.2:c.313G>C XP_011530330.1:p.Gly105Arg
NM_000297.4:c.313G>C MANE Select NP_000288.1:p.Gly105Arg
NR_156488.2:n.412G>C