Canonical Allele Identifier: CA892332691
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs17035378
MyVariant Identifiers: chr2:g.68598955T>A (hg19) chr2:g.68371823T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371823T>A , CM000664.2:g.68371823T>A GRCh38
NC_000002.11:g.68598955T>A , CM000664.1:g.68598955T>A GRCh37
NC_000002.10:g.68452459T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6430T>A MANE Select ENSP00000234313.7:n.42+6430T>A
ENST00000234313.7:c.42+6430T>A ENSP00000234313.7:n.42+6430T>A
NM_002664.2:c.42+6430T>A NP_002655.2:n.42+6430T>A
XM_011532916.1:c.42+6430T>A XP_011531218.1:n.42+6430T>A
NM_002664.3:c.42+6430T>A MANE Select NP_002655.2:n.42+6430T>A
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