Canonical Allele Identifier: CA3003851
Gene: PKD2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.88038372G>A
GRCh37 chr4:g.88959524G>A
Revel Score:
ENST00000237596 (MANE Select) 0.889
gnomAD v2:
4:88959524 G / A
gnomAD v3:
4:88038372 G / A
gnomAD v4:
chr4-88038372-G-A
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038372G>A , CM000666.2:g.88038372G>A GRCh38
NC_000004.11:g.88959524G>A , CM000666.1:g.88959524G>A GRCh37
NC_000004.10:g.89178548G>A NCBI36
NG_008604.1:g.35705G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.965G>A MANE Select ENSP00000237596.2:p.Arg322Gln
ENST00000237596.6:c.965G>A ENSP00000237596.2:p.Arg322Gln
ENST00000506367.1:n.412G>A
NM_000297.3:c.965G>A NP_000288.1:p.Arg322Gln
XM_011532028.1:c.965G>A XP_011530330.1:p.Arg322Gln
XM_011532029.1:c.245G>A XP_011530331.1:p.Arg82Gln
XM_011532030.1:c.125G>A XP_011530332.1:p.Arg42Gln
XR_244632.2:n.1060G>A
NR_156488.1:n.1052G>A
XM_011532028.2:c.965G>A XP_011530330.1:p.Arg322Gln
XM_011532030.2:c.125G>A XP_011530332.1:p.Arg42Gln
NM_000297.4:c.965G>A MANE Select NP_000288.1:p.Arg322Gln
NR_156488.2:n.1064G>A
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