Canonical Allele Identifier: CA396883913
Gene: PKD1L2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.81208497G>C
GRCh37 chr16:g.81242102G>C
Revel Score:
ENST00000337114 0.111
gnomAD v4:
chr16-81208497-G-C
Joint Max Group AF 6.9e-7 (NFE)
Exomes Max Group AF 7.4e-7 (NFE)
dbSNP:
6420424
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000337114.8:c.754C>G ENSP00000337397.4:p.Arg252Gly
ENST00000525539.5:c.754C>G ENSP00000434417.1:p.Arg252Gly
ENST00000614230.4:c.754C>G ENSP00000483832.1:p.Arg252Gly
NM_001076780.1:c.754C>G NP_001070248.1:p.Arg252Gly
NM_052892.3:c.754C>G NP_443124.3:p.Arg252Gly
NR_126532.1:n.754C>G
NM_001076780.2:c.754C>G NP_001070248.1:p.Arg252Gly
NM_052892.4:c.754C>G NP_443124.3:p.Arg252Gly
NR_126532.2:n.778C>G
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