Canonical Allele Identifier: CA533396684

Gene: PLEK

Linked Data

• dbSNP Id: rs55688935
• gnomAD v2: 2-68598974-C-T
• gnomAD v3: 2-68371842-C-T
• gnomAD v4: 2-68371842-C-T
• MyVariant Identifiers: chr2:g.68598974C>T (hg19) ; chr2:g.68371842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.68371842C>T , CM000664.2:g.68371842C>T	GRCh38
NC_000002.11:g.68598974C>T , CM000664.1:g.68598974C>T	GRCh37
NC_000002.10:g.68452478C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000234313.8:c.42+6449C>T MANE Select	ENSP00000234313.7:n.42+6449C>T
ENST00000234313.7:c.42+6449C>T	ENSP00000234313.7:n.42+6449C>T
NM_002664.2:c.42+6449C>T	NP_002655.2:n.42+6449C>T
XM_011532916.1:c.42+6449C>T	XP_011531218.1:n.42+6449C>T
NM_002664.3:c.42+6449C>T MANE Select	NP_002655.2:n.42+6449C>T