Canonical Allele Identifier: CA49440552
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1011543196
gnomAD v2: 2-68598930-T-G
gnomAD v3: 2-68371798-T-G
gnomAD v4: 2-68371798-T-G
MyVariant Identifiers: chr2:g.68598930T>G (hg19) chr2:g.68371798T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371798T>G , CM000664.2:g.68371798T>G GRCh38
NC_000002.11:g.68598930T>G , CM000664.1:g.68598930T>G GRCh37
NC_000002.10:g.68452434T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6405T>G MANE Select ENSP00000234313.7:n.42+6405T>G
ENST00000234313.7:c.42+6405T>G ENSP00000234313.7:n.42+6405T>G
NM_002664.2:c.42+6405T>G NP_002655.2:n.42+6405T>G
XM_011532916.1:c.42+6405T>G XP_011531218.1:n.42+6405T>G
NM_002664.3:c.42+6405T>G MANE Select NP_002655.2:n.42+6405T>G
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