Canonical Allele Identifier: CA533396783
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1376013154
gnomAD v2: 2-68599042-G-A
MyVariant Identifiers: chr2:g.68599042G>A (hg19) chr2:g.68371910G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371910G>A , CM000664.2:g.68371910G>A GRCh38
NC_000002.11:g.68599042G>A , CM000664.1:g.68599042G>A GRCh37
NC_000002.10:g.68452546G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6517G>A MANE Select ENSP00000234313.7:n.42+6517G>A
ENST00000234313.7:c.42+6517G>A ENSP00000234313.7:n.42+6517G>A
NM_002664.2:c.42+6517G>A NP_002655.2:n.42+6517G>A
XM_011532916.1:c.42+6517G>A XP_011531218.1:n.42+6517G>A
NM_002664.3:c.42+6517G>A MANE Select NP_002655.2:n.42+6517G>A
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