Canonical Allele Identifier: CA357624845
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007762A>C , CM000666.2:g.88007762A>C GRCh38
NC_000004.11:g.88928914A>C , CM000666.1:g.88928914A>C GRCh37
NC_000004.10:g.89147938A>C NCBI36
NG_008604.1:g.5095A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.29A>C MANE Select ENSP00000237596.2:p.Gln10Pro
ENST00000237596.6:c.29A>C ENSP00000237596.2:p.Gln10Pro
NM_000297.3:c.29A>C NP_000288.1:p.Gln10Pro
XM_011532028.1:c.29A>C XP_011530330.1:p.Gln10Pro
XR_244632.2:n.124A>C
NR_156488.1:n.116A>C
XM_011532028.2:c.29A>C XP_011530330.1:p.Gln10Pro
NM_000297.4:c.29A>C MANE Select NP_000288.1:p.Gln10Pro
NR_156488.2:n.128A>C