Canonical Allele Identifier: CA14833384

Gene: PCSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17376928G>A , CM000682.2:g.17376928G>A	GRCh38
NC_000020.10:g.17357573G>A , CM000682.1:g.17357573G>A	GRCh37
NC_000020.9:g.17305573G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002594.5:c.543+7651G>A MANE Select	NP_002585.2:n.543+7651G>A
ENST00000262545.7:c.543+7651G>A MANE Select	ENSP00000262545.2:n.543+7651G>A
NM_001201528.1:c.486+7651G>A	NP_001188457.1:n.486+7651G>A
NM_001201528.2:c.486+7651G>A	NP_001188457.1:n.486+7651G>A
NM_001201529.2:c.438+7651G>A	NP_001188458.1:n.438+7651G>A
NM_001201529.3:c.438+7651G>A	NP_001188458.1:n.438+7651G>A
NM_002594.4:c.543+7651G>A	NP_002585.2:n.543+7651G>A
ENST00000262545.6:c.543+7651G>A	ENSP00000262545.2:n.543+7651G>A
ENST00000377899.5:c.486+7651G>A	ENSP00000367131.1:n.486+7651G>A
ENST00000470007.1:n.538+7651G>A
ENST00000536609.1:c.438+7651G>A	ENSP00000437458.1:n.438+7651G>A