Canonical Allele Identifier: CA348297944

Gene: CKAP2L

Linked Data

• ClinVar Variation Id: 2295354
• ClinVar RCV Id: RCV002865250
• dbSNP Id: rs1680555904
• gnomAD v4: 2-112756807-C-G
• MyVariant Identifiers: chr2:g.113514384C>G (hg19) ; chr2:g.112756807C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756807C>G , CM000664.2:g.112756807C>G	GRCh38
NC_000002.11:g.113514384C>G , CM000664.1:g.113514384C>G	GRCh37
NC_000002.10:g.113230855C>G	NCBI36
NG_041820.1:g.12871G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.564G>C MANE Select	ENSP00000305204.6:p.Leu188Phe
ENST00000302450.10:c.564G>C	ENSP00000305204.6:p.Leu188Phe
ENST00000435431.5:c.478+86G>C	ENSP00000414834.1:n.478+86G>C
ENST00000481732.5:n.525G>C
NM_001304361.1:c.69G>C	NP_001291290.1:p.Leu23Phe
NM_152515.4:c.564G>C	NP_689728.3:p.Leu188Phe
NR_130712.1:n.557+86G>C
XM_011510666.1:c.69G>C	XP_011508968.1:p.Leu23Phe
XM_011510666.2:c.69G>C	XP_011508968.1:p.Leu23Phe
NM_152515.5:c.564G>C MANE Select	NP_689728.3:p.Leu188Phe
NM_001304361.2:c.69G>C	NP_001291290.1:p.Leu23Phe
NR_130712.2:n.489+86G>C