Canonical Allele Identifier: CA357626144
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008044A>C , CM000666.2:g.88008044A>C GRCh38
NC_000004.11:g.88929196A>C , CM000666.1:g.88929196A>C GRCh37
NC_000004.10:g.89148220A>C NCBI36
NG_008604.1:g.5377A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.311A>C MANE Select ENSP00000237596.2:p.Glu104Ala
ENST00000237596.6:c.311A>C ENSP00000237596.2:p.Glu104Ala
NM_000297.3:c.311A>C NP_000288.1:p.Glu104Ala
XM_011532028.1:c.311A>C XP_011530330.1:p.Glu104Ala
XR_244632.2:n.406A>C
NR_156488.1:n.398A>C
XM_011532028.2:c.311A>C XP_011530330.1:p.Glu104Ala
NM_000297.4:c.311A>C MANE Select NP_000288.1:p.Glu104Ala
NR_156488.2:n.410A>C