Canonical Allele Identifier: CA535595874

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1326031647
• gnomAD v2: 2-113514083-C-CT
• gnomAD v4: 2-112756506-C-CT
• MyVariant Identifiers: chr2:g.113514083_113514084insT (hg19) ; chr2:g.112756506_112756507insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756509dup , CM000664.2:g.112756509dup	GRCh38
NC_000002.11:g.113514086dup , CM000664.1:g.113514086dup	GRCh37
NC_000002.10:g.113230557dup	NCBI36
NG_041820.1:g.13171dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.864dup MANE Select	ENSP00000305204.6:p.Val289SerfsTer18
ENST00000302450.10:c.864dup	ENSP00000305204.6:p.Val289SerfsTer18
ENST00000435431.5:c.479-373dup	ENSP00000414834.1:n.479-373dup
NM_001304361.1:c.369dup	NP_001291290.1:p.Val124SerfsTer18
NM_152515.4:c.864dup	NP_689728.3:p.Val289SerfsTer18
NR_130712.1:n.558-373dup
XM_011510666.1:c.369dup	XP_011508968.1:p.Val124SerfsTer18
XM_011510666.2:c.369dup	XP_011508968.1:p.Val124SerfsTer18
NM_152515.5:c.864dup MANE Select	NP_689728.3:p.Val289SerfsTer18
NM_001304361.2:c.369dup	NP_001291290.1:p.Val124SerfsTer18
NR_130712.2:n.490-373dup