Canonical Allele Identifier: CA348297197
Gene: CKAP2L HGNC NCBI

Linked Data

ClinVar Variation Id: 1310427
ClinVar RCV Id: RCV001767541
dbSNP Id: rs2104883971

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756464T>C , CM000664.2:g.112756464T>C GRCh38
NC_000002.11:g.113514041T>C , CM000664.1:g.113514041T>C GRCh37
NC_000002.10:g.113230512T>C NCBI36
NG_041820.1:g.13214A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.907A>G MANE Select ENSP00000305204.6:p.Ile303Val
ENST00000302450.10:c.907A>G ENSP00000305204.6:p.Ile303Val
ENST00000435431.5:c.479-330A>G ENSP00000414834.1:n.479-330A>G
NM_001304361.1:c.412A>G NP_001291290.1:p.Ile138Val
NM_152515.4:c.907A>G NP_689728.3:p.Ile303Val
NR_130712.1:n.558-330A>G
XM_011510666.1:c.412A>G XP_011508968.1:p.Ile138Val
XM_011510666.2:c.412A>G XP_011508968.1:p.Ile138Val
NM_152515.5:c.907A>G MANE Select NP_689728.3:p.Ile303Val
NM_001304361.2:c.412A>G NP_001291290.1:p.Ile138Val
NR_130712.2:n.490-330A>G