Canonical Allele Identifier: CA49440629

Gene: PLEK

Linked Data

• dbSNP Id: rs1035889318
• gnomAD v2: 2-68598992-A-G
• gnomAD v3: 2-68371860-A-G
• gnomAD v4: 2-68371860-A-G
• MyVariant Identifiers: chr2:g.68598992A>G (hg19) ; chr2:g.68371860A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.68371860A>G , CM000664.2:g.68371860A>G	GRCh38
NC_000002.11:g.68598992A>G , CM000664.1:g.68598992A>G	GRCh37
NC_000002.10:g.68452496A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000234313.8:c.42+6467A>G MANE Select	ENSP00000234313.7:n.42+6467A>G
ENST00000234313.7:c.42+6467A>G	ENSP00000234313.7:n.42+6467A>G
NM_002664.2:c.42+6467A>G	NP_002655.2:n.42+6467A>G
XM_011532916.1:c.42+6467A>G	XP_011531218.1:n.42+6467A>G
NM_002664.3:c.42+6467A>G MANE Select	NP_002655.2:n.42+6467A>G