Canonical Allele Identifier: CA49440442
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs752422986
gnomAD v2: 2-68598805-G-C
gnomAD v3: 2-68371673-G-C
gnomAD v4: 2-68371673-G-C
MyVariant Identifiers: chr2:g.68598805G>C (hg19) chr2:g.68371673G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371673G>C , CM000664.2:g.68371673G>C GRCh38
NC_000002.11:g.68598805G>C , CM000664.1:g.68598805G>C GRCh37
NC_000002.10:g.68452309G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6280G>C MANE Select ENSP00000234313.7:n.42+6280G>C
ENST00000234313.7:c.42+6280G>C ENSP00000234313.7:n.42+6280G>C
NM_002664.2:c.42+6280G>C NP_002655.2:n.42+6280G>C
XM_011532916.1:c.42+6280G>C XP_011531218.1:n.42+6280G>C
NM_002664.3:c.42+6280G>C MANE Select NP_002655.2:n.42+6280G>C
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