Canonical Allele Identifier: CA348297961

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1558762342
• gnomAD v2: 2-113514392-C-T
• gnomAD v4: 2-112756815-C-T
• MyVariant Identifiers: chr2:g.113514392C>T (hg19) ; chr2:g.113514392_113514396delinsTTTTG (hg19) ; chr2:g.112756815C>T (hg38) ; chr2:g.112756815_112756819delinsTTTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756815C>T , CM000664.2:g.112756815C>T	GRCh38
NC_000002.11:g.113514392C>T , CM000664.1:g.113514392C>T	GRCh37
NC_000002.10:g.113230863C>T	NCBI36
NG_041820.1:g.12863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.556G>A MANE Select	ENSP00000305204.6:p.Glu186Lys
ENST00000302450.10:c.556G>A	ENSP00000305204.6:p.Glu186Lys
ENST00000435431.5:c.478+78G>A	ENSP00000414834.1:n.478+78G>A
ENST00000481732.5:n.517G>A
NM_001304361.1:c.61G>A	NP_001291290.1:p.Glu21Lys
NM_152515.4:c.556G>A	NP_689728.3:p.Glu186Lys
NR_130712.1:n.557+78G>A
XM_011510666.1:c.61G>A	XP_011508968.1:p.Glu21Lys
XM_011510666.2:c.61G>A	XP_011508968.1:p.Glu21Lys
NM_152515.5:c.556G>A MANE Select	NP_689728.3:p.Glu186Lys
NM_001304361.2:c.61G>A	NP_001291290.1:p.Glu21Lys
NR_130712.2:n.489+78G>A