Canonical Allele Identifier: CA14229020
Gene: PKD1L2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.81215330T>G
GRCh37 chr16:g.81248935T>G
gnomAD v2:
16:81248935 T / G
gnomAD v3:
16:81215330 T / G
gnomAD v4:
chr16-81215330-T-G
Joint Max Group AF 0.52353001 (AFR)
Genomes Max Group AF 0.52309495 (AFR)
Exomes Max Group AF 0.51778579 (AFR)
dbSNP:
8044334
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81215330T>G , CM000678.2:g.81215330T>G GRCh38
NC_000016.9:g.81248935T>G , CM000678.1:g.81248935T>G GRCh37
NC_000016.8:g.79806436T>G NCBI36
NG_033236.1:g.10041A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337114.8:c.464-136A>C ENSP00000337397.4:n.464-136A>C
ENST00000525539.5:c.464-136A>C ENSP00000434417.1:n.464-136A>C
ENST00000614230.4:c.464-136A>C ENSP00000483832.1:n.464-136A>C
NM_001076780.1:c.464-136A>C NP_001070248.1:n.464-136A>C
NM_052892.3:c.464-136A>C NP_443124.3:n.464-136A>C
NR_126532.1:n.464-136A>C
NM_001076780.2:c.464-136A>C NP_001070248.1:n.464-136A>C
NM_052892.4:c.464-136A>C NP_443124.3:n.464-136A>C
NR_126532.2:n.488-136A>C
Search 100 bp 5'
Search 100 bp 3'