Canonical Allele Identifier: CA14751668
Gene: PCSK2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.17453641G>C
GRCh37 chr20:g.17434286G>C
gnomAD v2:
20:17434286 G / C
gnomAD v3:
20:17453641 G / C
gnomAD v4:
chr20-17453641-G-C
Joint Max Group AF 0.48035169 (SAS)
Genomes Max Group AF 0.45872853 (SAS)
Exomes Max Group AF 0.48084945 (SAS)
dbSNP:
6080699
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.17453641G>C , CM000682.2:g.17453641G>C GRCh38
NC_000020.10:g.17434286G>C , CM000682.1:g.17434286G>C GRCh37
NC_000020.9:g.17382286G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262545.7:c.886-101G>C MANE Select ENSP00000262545.2:n.886-101G>C
ENST00000262545.6:c.886-101G>C ENSP00000262545.2:n.886-101G>C
ENST00000377899.5:c.829-101G>C ENSP00000367131.1:n.829-101G>C
ENST00000536609.1:c.781-101G>C ENSP00000437458.1:n.781-101G>C
NM_001201528.1:c.829-101G>C NP_001188457.1:n.829-101G>C
NM_001201529.2:c.781-101G>C NP_001188458.1:n.781-101G>C
NM_002594.4:c.886-101G>C NP_002585.2:n.886-101G>C
NM_002594.5:c.886-101G>C MANE Select NP_002585.2:n.886-101G>C
NM_001201529.3:c.781-101G>C NP_001188458.1:n.781-101G>C
NM_001201528.2:c.829-101G>C NP_001188457.1:n.829-101G>C
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