Canonical Allele Identifier: CA634416724
Gene: PCSK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.17387897C>A , CM000682.2:g.17387897C>A GRCh38
NC_000020.10:g.17368542C>A , CM000682.1:g.17368542C>A GRCh37
NC_000020.9:g.17316542C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262545.7:c.543+18620C>A MANE Select ENSP00000262545.2:n.543+18620C>A
ENST00000262545.6:c.543+18620C>A ENSP00000262545.2:n.543+18620C>A
ENST00000377899.5:c.486+18620C>A ENSP00000367131.1:n.486+18620C>A
ENST00000470007.1:n.538+18620C>A
ENST00000536609.1:c.438+18620C>A ENSP00000437458.1:n.438+18620C>A
NM_001201528.1:c.486+18620C>A NP_001188457.1:n.486+18620C>A
NM_001201529.2:c.438+18620C>A NP_001188458.1:n.438+18620C>A
NM_002594.4:c.543+18620C>A NP_002585.2:n.543+18620C>A
NM_002594.5:c.543+18620C>A MANE Select NP_002585.2:n.543+18620C>A
NM_001201529.3:c.438+18620C>A NP_001188458.1:n.438+18620C>A
NM_001201528.2:c.486+18620C>A NP_001188457.1:n.486+18620C>A