Canonical Allele Identifier: CA8190154
Gene: PKD1L2 HGNC NCBI
COSMIC:
COSM3755116 (not active)
COSM3755117 (not active)
MyVariant.info:
GRCh38 chr16:g.81208497G>A
GRCh37 chr16:g.81242102G>A
Revel Score:
ENST00000337114 0.137
gnomAD v2:
16:81242102 G / A
gnomAD v3:
16:81208497 G / A
gnomAD v4:
chr16-81208497-G-A
Joint Max Group AF 0.85321515 (EAS)
Genomes Max Group AF 0.84464445 (EAS)
Exomes Max Group AF 0.85204998 (EAS)
dbSNP:
6420424
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81208497G>A , CM000678.2:g.81208497G>A GRCh38
NC_000016.9:g.81242102G>A , CM000678.1:g.81242102G>A GRCh37
NC_000016.8:g.79799603G>A NCBI36
NG_033236.1:g.16874C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337114.8:c.754C>T ENSP00000337397.4:p.Arg252Trp
ENST00000525539.5:c.754C>T ENSP00000434417.1:p.Arg252Trp
ENST00000614230.4:c.754C>T ENSP00000483832.1:p.Arg252Trp
NM_001076780.1:c.754C>T NP_001070248.1:p.Arg252Trp
NM_052892.3:c.754C>T NP_443124.3:p.Arg252Trp
NR_126532.1:n.754C>T
NM_001076780.2:c.754C>T NP_001070248.1:p.Arg252Trp
NM_052892.4:c.754C>T NP_443124.3:p.Arg252Trp
NR_126532.2:n.778C>T
Search 100 bp 5'
Search 100 bp 3'