Canonical Allele Identifier: CA496458793
Gene: PKD1L2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000337114.8:c.754C>A ENSP00000337397.4:p.Arg252=
ENST00000525539.5:c.754C>A ENSP00000434417.1:p.Arg252=
ENST00000614230.4:c.754C>A ENSP00000483832.1:p.Arg252=
NM_001076780.1:c.754C>A NP_001070248.1:p.Arg252=
NM_052892.3:c.754C>A NP_443124.3:p.Arg252=
NR_126532.1:n.754C>A
NM_001076780.2:c.754C>A NP_001070248.1:p.Arg252=
NM_052892.4:c.754C>A NP_443124.3:p.Arg252=
NR_126532.2:n.778C>A