Canonical Allele Identifier: CA53691718
Gene: CKAP2L HGNC NCBI

Linked Data

ClinVar Variation Id: 2411628
ClinVar RCV Id: RCV002779798
dbSNP Id: rs758638641
gnomAD v2: 2-113514450-C-A
gnomAD v3: 2-112756873-C-A
gnomAD v4: 2-112756873-C-A
COSMIC: COSM4598062
MyVariant Identifiers: chr2:g.113514450C>A (hg19) chr2:g.112756873C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756873C>A , CM000664.2:g.112756873C>A GRCh38
NC_000002.11:g.113514450C>A , CM000664.1:g.113514450C>A GRCh37
NC_000002.10:g.113230921C>A NCBI36
NG_041820.1:g.12805G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.498G>T MANE Select ENSP00000305204.6:p.Met166Ile
ENST00000302450.10:c.498G>T ENSP00000305204.6:p.Met166Ile
ENST00000435431.5:c.478+20G>T ENSP00000414834.1:n.478+20G>T
ENST00000481732.5:n.459G>T
NM_001304361.1:c.3G>T NP_001291290.1:p.Met1Ile
NM_152515.4:c.498G>T NP_689728.3:p.Met166Ile
NR_130712.1:n.557+20G>T
XM_011510666.1:c.3G>T XP_011508968.1:p.Met1Ile
XM_011510666.2:c.3G>T XP_011508968.1:p.Met1Ile
NM_152515.5:c.498G>T MANE Select NP_689728.3:p.Met166Ile
NM_001304361.2:c.3G>T NP_001291290.1:p.Met1Ile
NR_130712.2:n.489+20G>T
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