Canonical Allele Identifier: CA357624957
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2826064
ClinVar RCV Id: RCV003747170
gnomAD v4: 4-88007788-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007788C>T , CM000666.2:g.88007788C>T GRCh38
NC_000004.11:g.88928940C>T , CM000666.1:g.88928940C>T GRCh37
NC_000004.10:g.89147964C>T NCBI36
NG_008604.1:g.5121C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.55C>T MANE Select ENSP00000237596.2:p.Pro19Ser
ENST00000237596.6:c.55C>T ENSP00000237596.2:p.Pro19Ser
NM_000297.3:c.55C>T NP_000288.1:p.Pro19Ser
XM_011532028.1:c.55C>T XP_011530330.1:p.Pro19Ser
XR_244632.2:n.150C>T
NR_156488.1:n.142C>T
XM_011532028.2:c.55C>T XP_011530330.1:p.Pro19Ser
NM_000297.4:c.55C>T MANE Select NP_000288.1:p.Pro19Ser
NR_156488.2:n.154C>T