Canonical Allele Identifier: CA3003711
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350011
ClinVar RCV Id: RCV000341866
dbSNP Id: rs759263638
gnomAD v2: 4-88928988-G-A
gnomAD v3: 4-88007836-G-A
gnomAD v4: 4-88007836-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007836G>A , CM000666.2:g.88007836G>A GRCh38
NC_000004.11:g.88928988G>A , CM000666.1:g.88928988G>A GRCh37
NC_000004.10:g.89148012G>A NCBI36
NG_008604.1:g.5169G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.103G>A MANE Select ENSP00000237596.2:p.Ala35Thr
ENST00000237596.6:c.103G>A ENSP00000237596.2:p.Ala35Thr
NM_000297.3:c.103G>A NP_000288.1:p.Ala35Thr
XM_011532028.1:c.103G>A XP_011530330.1:p.Ala35Thr
XR_244632.2:n.198G>A
NR_156488.1:n.190G>A
XM_011532028.2:c.103G>A XP_011530330.1:p.Ala35Thr
NM_000297.4:c.103G>A MANE Select NP_000288.1:p.Ala35Thr
NR_156488.2:n.202G>A