Canonical Allele Identifier: CA1836731

Gene: CKAP2L

Linked Data

• ClinVar Variation Id: 451430
• ClinVar RCV Id: RCV000519305 ; RCV002481720
• dbSNP Id: rs755184431
• ExAC: 2:113513854 GTC / G
• gnomAD v2: 2-113513854-GTC-G
• gnomAD v3: 2-112756277-GTC-G
• gnomAD v4: 2-112756277-GTC-G
• MyVariant Identifiers: chr2:g.113513855_113513856del (hg19) ; chr2:g.112756278_112756279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756279_112756280del , CM000664.2:g.112756279_112756280del	GRCh38
NC_000002.11:g.113513856_113513857del , CM000664.1:g.113513856_113513857del	GRCh37
NC_000002.10:g.113230327_113230328del	NCBI36
NG_041820.1:g.13399_13400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.1092_1093del MANE Select	ENSP00000305204.6:p.Gln364HisfsTer16
ENST00000302450.10:c.1092_1093del	ENSP00000305204.6:p.Gln364HisfsTer16
ENST00000435431.5:c.479-145_479-144del	ENSP00000414834.1:n.479-145_479-144del
NM_001304361.1:c.597_598del	NP_001291290.1:p.Gln199HisfsTer16
NM_152515.4:c.1092_1093del	NP_689728.3:p.Gln364HisfsTer16
NR_130712.1:n.558-145_558-144del
XM_011510666.1:c.597_598del	XP_011508968.1:p.Gln199HisfsTer16
XM_011510666.2:c.597_598del	XP_011508968.1:p.Gln199HisfsTer16
NM_152515.5:c.1092_1093del MANE Select	NP_689728.3:p.Gln364HisfsTer16
NM_001304361.2:c.597_598del	NP_001291290.1:p.Gln199HisfsTer16
NR_130712.2:n.490-145_490-144del