Canonical Allele Identifier: CA357626783
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008206A>T , CM000666.2:g.88008206A>T GRCh38
NC_000004.11:g.88929358A>T , CM000666.1:g.88929358A>T GRCh37
NC_000004.10:g.89148382A>T NCBI36
NG_008604.1:g.5539A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.473A>T MANE Select ENSP00000237596.2:p.Glu158Val
ENST00000237596.6:c.473A>T ENSP00000237596.2:p.Glu158Val
NM_000297.3:c.473A>T NP_000288.1:p.Glu158Val
XM_011532028.1:c.473A>T XP_011530330.1:p.Glu158Val
XR_244632.2:n.568A>T
NR_156488.1:n.560A>T
XM_011532028.2:c.473A>T XP_011530330.1:p.Glu158Val
NM_000297.4:c.473A>T MANE Select NP_000288.1:p.Glu158Val
NR_156488.2:n.572A>T