Canonical Allele Identifier: CA175010
Gene: CKAP2L HGNC NCBI

Linked Data

ClinVar Variation Id: 162384
ClinVar RCV Id: RCV000149779
dbSNP Id: rs727502802
gnomAD v3: 2-112756799-A-AT
gnomAD v4: 2-112756799-A-AT
MyVariant Identifiers: chr2:g.113514377dupT (hg19) chr2:g.113514376_113514377insT (hg19) chr2:g.112756800dupT (hg38) chr2:g.112756799_112756800insT (hg38)
PubMed: PMID:18553552 PMID:25439729
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756800dup , CM000664.2:g.112756800dup GRCh38
NC_000002.11:g.113514377dup , CM000664.1:g.113514377dup GRCh37
NC_000002.10:g.113230848dup NCBI36
NG_041820.1:g.12878dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.571dup MANE Select ENSP00000305204.6:p.Ile191AsnfsTer6
ENST00000302450.10:c.571dup ENSP00000305204.6:p.Ile191AsnfsTer6
ENST00000435431.5:c.478+93dup ENSP00000414834.1:n.478+93dup
ENST00000481732.5:n.532dup
NM_001304361.1:c.76dup NP_001291290.1:p.Ile26AsnfsTer6
NM_152515.4:c.571dup NP_689728.3:p.Ile191AsnfsTer6
NR_130712.1:n.557+93dup
XM_011510666.1:c.76dup XP_011508968.1:p.Ile26AsnfsTer6
XM_011510666.2:c.76dup XP_011508968.1:p.Ile26AsnfsTer6
NM_152515.5:c.571dup MANE Select NP_689728.3:p.Ile191AsnfsTer6
NM_001304361.2:c.76dup NP_001291290.1:p.Ile26AsnfsTer6
NR_130712.2:n.489+93dup
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