Canonical Allele Identifier: CA357626315
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008082-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008082G>C , CM000666.2:g.88008082G>C GRCh38
NC_000004.11:g.88929234G>C , CM000666.1:g.88929234G>C GRCh37
NC_000004.10:g.89148258G>C NCBI36
NG_008604.1:g.5415G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.349G>C MANE Select ENSP00000237596.2:p.Glu117Gln
ENST00000237596.6:c.349G>C ENSP00000237596.2:p.Glu117Gln
NM_000297.3:c.349G>C NP_000288.1:p.Glu117Gln
XM_011532028.1:c.349G>C XP_011530330.1:p.Glu117Gln
XR_244632.2:n.444G>C
NR_156488.1:n.436G>C
XM_011532028.2:c.349G>C XP_011530330.1:p.Glu117Gln
NM_000297.4:c.349G>C MANE Select NP_000288.1:p.Glu117Gln
NR_156488.2:n.448G>C