Canonical Allele Identifier: CA3003802
Gene: PKD2 HGNC NCBI
COSMIC:
COSM6457164 (not active)
MyVariant.info:
GRCh38 chr4:g.88036294G>A
GRCh37 chr4:g.88957446G>A
Revel Score:
ENST00000237596 (MANE Select) 0.625
gnomAD v2:
4:88957446 G / A
gnomAD v3:
4:88036294 G / A
gnomAD v4:
chr4-88036294-G-A
Joint Max Group AF 0.0014317 (SAS)
Genomes Max Group AF 0.00087526 (NFE)
Exomes Max Group AF 0.00147917 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88036294G>A , CM000666.2:g.88036294G>A GRCh38
NC_000004.11:g.88957446G>A , CM000666.1:g.88957446G>A GRCh37
NC_000004.10:g.89176470G>A NCBI36
NG_008604.1:g.33627G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.784G>A MANE Select ENSP00000237596.2:p.Val262Met
ENST00000237596.6:c.784G>A ENSP00000237596.2:p.Val262Met
ENST00000506367.1:n.231G>A
ENST00000506727.1:n.370G>A
NM_000297.3:c.784G>A NP_000288.1:p.Val262Met
XM_011532028.1:c.784G>A XP_011530330.1:p.Val262Met
XM_011532029.1:c.64G>A XP_011530331.1:p.Val22Met
XR_244632.2:n.879G>A
NR_156488.1:n.871G>A
XM_011532028.2:c.784G>A XP_011530330.1:p.Val262Met
XM_011532030.2:c.-184G>A XP_011530332.1:n.-184G>A
NM_000297.4:c.784G>A MANE Select NP_000288.1:p.Val262Met
NR_156488.2:n.883G>A
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