Canonical Allele Identifier: CA348297197

Gene: CKAP2L

Linked Data

• ClinVar Variation Id: 1310427
• ClinVar RCV Id: RCV001767541
• dbSNP Id: rs2104883971
• MyVariant Identifiers: chr2:g.113514041T>C (hg19) ; chr2:g.112756464T>C (hg38)

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