Canonical Allele Identifier: CA357624850
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007764-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007764C>A , CM000666.2:g.88007764C>A GRCh38
NC_000004.11:g.88928916C>A , CM000666.1:g.88928916C>A GRCh37
NC_000004.10:g.89147940C>A NCBI36
NG_008604.1:g.5097C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.31C>A MANE Select ENSP00000237596.2:p.Gln11Lys
ENST00000237596.6:c.31C>A ENSP00000237596.2:p.Gln11Lys
NM_000297.3:c.31C>A NP_000288.1:p.Gln11Lys
XM_011532028.1:c.31C>A XP_011530330.1:p.Gln11Lys
XR_244632.2:n.126C>A
NR_156488.1:n.118C>A
XM_011532028.2:c.31C>A XP_011530330.1:p.Gln11Lys
NM_000297.4:c.31C>A MANE Select NP_000288.1:p.Gln11Lys
NR_156488.2:n.130C>A