Canonical Allele Identifier: CA348297914

Gene: CKAP2L

Linked Data

• ClinVar Variation Id: 2214080
• ClinVar RCV Id: RCV002672569
• dbSNP Id: rs1400304367
• gnomAD v4: 2-112756793-G-T
• MyVariant Identifiers: chr2:g.113514370G>T (hg19) ; chr2:g.112756793G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756793G>T , CM000664.2:g.112756793G>T	GRCh38
NC_000002.11:g.113514370G>T , CM000664.1:g.113514370G>T	GRCh37
NC_000002.10:g.113230841G>T	NCBI36
NG_041820.1:g.12885C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.578C>A MANE Select	ENSP00000305204.6:p.Thr193Lys
ENST00000302450.10:c.578C>A	ENSP00000305204.6:p.Thr193Lys
ENST00000435431.5:c.478+100C>A	ENSP00000414834.1:n.478+100C>A
ENST00000481732.5:n.539C>A
NM_001304361.1:c.83C>A	NP_001291290.1:p.Thr28Lys
NM_152515.4:c.578C>A	NP_689728.3:p.Thr193Lys
NR_130712.1:n.557+100C>A
XM_011510666.1:c.83C>A	XP_011508968.1:p.Thr28Lys
XM_011510666.2:c.83C>A	XP_011508968.1:p.Thr28Lys
NM_152515.5:c.578C>A MANE Select	NP_689728.3:p.Thr193Lys
NM_001304361.2:c.83C>A	NP_001291290.1:p.Thr28Lys
NR_130712.2:n.489+100C>A