Canonical Allele Identifier: CA49440466
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs75921451
gnomAD v2: 2-68598840-C-A
gnomAD v3: 2-68371708-C-A
gnomAD v4: 2-68371708-C-A
MyVariant Identifiers: chr2:g.68598840C>A (hg19) chr2:g.68371708C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371708C>A , CM000664.2:g.68371708C>A GRCh38
NC_000002.11:g.68598840C>A , CM000664.1:g.68598840C>A GRCh37
NC_000002.10:g.68452344C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6315C>A MANE Select ENSP00000234313.7:n.42+6315C>A
ENST00000234313.7:c.42+6315C>A ENSP00000234313.7:n.42+6315C>A
NM_002664.2:c.42+6315C>A NP_002655.2:n.42+6315C>A
XM_011532916.1:c.42+6315C>A XP_011531218.1:n.42+6315C>A
NM_002664.3:c.42+6315C>A MANE Select NP_002655.2:n.42+6315C>A
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