Canonical Allele Identifier: CA3004060
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350024
dbSNP Id: rs145952917
gnomAD v2: 4-88977357-T-C
gnomAD v3: 4-88056205-T-C
gnomAD v4: 4-88056205-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88056205T>C , CM000666.2:g.88056205T>C GRCh38
NC_000004.11:g.88977357T>C , CM000666.1:g.88977357T>C GRCh37
NC_000004.10:g.89196381T>C NCBI36
NG_008604.1:g.53538T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1836T>C MANE Select ENSP00000237596.2:p.Ala612=
ENST00000237596.6:c.1836T>C ENSP00000237596.2:p.Ala612=
ENST00000502363.1:c.90T>C ENSP00000425289.1:p.Ala30=
ENST00000508588.5:c.90T>C ENSP00000427131.1:p.Ala30=
ENST00000511337.5:n.209T>C
ENST00000512858.1:n.169T>C
NM_000297.3:c.1836T>C NP_000288.1:p.Ala612=
XM_011532028.1:c.1611T>C XP_011530330.1:p.Ala537=
XM_011532029.1:c.1116T>C XP_011530331.1:p.Ala372=
XM_011532030.1:c.996T>C XP_011530332.1:p.Ala332=
XR_244632.2:n.1931T>C
NR_156488.1:n.1923T>C
XM_011532028.2:c.1611T>C XP_011530330.1:p.Ala537=
XM_011532030.2:c.996T>C XP_011530332.1:p.Ala332=
NM_000297.4:c.1836T>C MANE Select NP_000288.1:p.Ala612=
NR_156488.2:n.1935T>C