Canonical Allele Identifier: CA348383
Gene: PKD2 HGNC NCBI
COSMIC:
COSM5001989 (not active)
MyVariant.info:
GRCh38 chr4:g.88067937A>C
GRCh37 chr4:g.88989089A>C
Revel Score:
ENST00000237596 (MANE Select) 0.399
ENST00000508588 0.399
ENST00000502363 0.399
gnomAD v2:
4:88989089 A / C
gnomAD v3:
4:88067937 A / C
gnomAD v4:
chr4-88067937-A-C
Joint Max Group AF 0.01707194 (MID)
Genomes Max Group AF 0.00935671 (SAS)
Exomes Max Group AF 0.0158617 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88067937A>C , CM000666.2:g.88067937A>C GRCh38
NC_000004.11:g.88989089A>C , CM000666.1:g.88989089A>C GRCh37
NC_000004.10:g.89208113A>C NCBI36
NG_008604.1:g.65270A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2398A>C MANE Select ENSP00000237596.2:p.Met800Leu
ENST00000237596.6:c.2398A>C ENSP00000237596.2:p.Met800Leu
ENST00000502363.1:c.652A>C ENSP00000425289.1:p.Met218Leu
ENST00000508588.5:c.652A>C ENSP00000427131.1:p.Met218Leu
ENST00000511337.5:n.650A>C
ENST00000512858.1:n.876A>C
NM_000297.3:c.2398A>C NP_000288.1:p.Met800Leu
XM_011532028.1:c.2173A>C XP_011530330.1:p.Met725Leu
XM_011532029.1:c.1678A>C XP_011530331.1:p.Met560Leu
XM_011532030.1:c.1558A>C XP_011530332.1:p.Met520Leu
NR_156488.1:n.2364A>C
XM_011532028.2:c.2173A>C XP_011530330.1:p.Met725Leu
XM_011532030.2:c.1558A>C XP_011530332.1:p.Met520Leu
NM_000297.4:c.2398A>C MANE Select NP_000288.1:p.Met800Leu
NR_156488.2:n.2376A>C
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