Canonical Allele Identifier: CA357616589
Gene: PKD2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.88043458G>A
GRCh37 chr4:g.88964610G>A
gnomAD v2:
4:88964610 G / A
gnomAD v3:
4:88043458 G / A
gnomAD v4:
chr4-88043458-G-A
Joint Max Group AF 0.00001754 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00001004 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88043458G>A , CM000666.2:g.88043458G>A GRCh38
NC_000004.11:g.88964610G>A , CM000666.1:g.88964610G>A GRCh37
NC_000004.10:g.89183634G>A NCBI36
NG_008604.1:g.40791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1319+1G>A MANE Select ENSP00000237596.2:n.1319+1G>A
ENST00000237596.6:c.1319+1G>A ENSP00000237596.2:n.1319+1G>A
ENST00000508588.5:c.-199+1G>A ENSP00000427131.1:n.-199+1G>A
NM_000297.3:c.1319+1G>A NP_000288.1:n.1319+1G>A
XM_011532028.1:c.1095-3184G>A XP_011530330.1:n.1095-3184G>A
XM_011532029.1:c.599+1G>A XP_011530331.1:n.599+1G>A
XM_011532030.1:c.479+1G>A XP_011530332.1:n.479+1G>A
XR_244632.2:n.1414+1G>A
NR_156488.1:n.1406+1G>A
XM_011532028.2:c.1095-3184G>A XP_011530330.1:n.1095-3184G>A
XM_011532030.2:c.479+1G>A XP_011530332.1:n.479+1G>A
NM_000297.4:c.1319+1G>A MANE Select NP_000288.1:n.1319+1G>A
NR_156488.2:n.1418+1G>A
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