Canonical Allele Identifier: CA3003990
Gene: PKD2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.88051987T>C
GRCh37 chr4:g.88973139T>C
gnomAD v2:
4:88973139 T / C
gnomAD v3:
4:88051987 T / C
gnomAD v4:
chr4-88051987-T-C
Joint Max Group AF 0.00009427 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00009396 (NFE)
ClinVar Allele:
251604
ClinVar RCV:
RCV000254194
RCV000725986
RCV002057336
ClinVar Variation:
255790
dbSNP:
374450718
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88051987T>C , CM000666.2:g.88051987T>C GRCh38
NC_000004.11:g.88973139T>C , CM000666.1:g.88973139T>C GRCh37
NC_000004.10:g.89192163T>C NCBI36
NG_008604.1:g.49320T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1549-4T>C MANE Select ENSP00000237596.2:n.1549-4T>C
ENST00000237596.6:c.1549-4T>C ENSP00000237596.2:n.1549-4T>C
ENST00000508588.5:c.-198-4T>C ENSP00000427131.1:n.-198-4T>C
NM_000297.3:c.1549-4T>C NP_000288.1:n.1549-4T>C
XM_011532028.1:c.1324-4T>C XP_011530330.1:n.1324-4T>C
XM_011532029.1:c.829-4T>C XP_011530331.1:n.829-4T>C
XM_011532030.1:c.709-4T>C XP_011530332.1:n.709-4T>C
XR_244632.2:n.1644-4T>C
NR_156488.1:n.1636-4T>C
XM_011532028.2:c.1324-4T>C XP_011530330.1:n.1324-4T>C
XM_011532030.2:c.709-4T>C XP_011530332.1:n.709-4T>C
NM_000297.4:c.1549-4T>C MANE Select NP_000288.1:n.1549-4T>C
NR_156488.2:n.1648-4T>C
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