Canonical Allele Identifier: CA348297194

Gene: CKAP2L

Linked Data

• dbSNP Id: rs143618159
• gnomAD v3: 2-112756463-A-C
• gnomAD v4: 2-112756463-A-C
• MyVariant Identifiers: chr2:g.113514040A>C (hg19) ; chr2:g.112756463A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756463A>C , CM000664.2:g.112756463A>C	GRCh38
NC_000002.11:g.113514040A>C , CM000664.1:g.113514040A>C	GRCh37
NC_000002.10:g.113230511A>C	NCBI36
NG_041820.1:g.13215T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.908T>G MANE Select	ENSP00000305204.6:p.Ile303Arg
ENST00000302450.10:c.908T>G	ENSP00000305204.6:p.Ile303Arg
ENST00000435431.5:c.479-329T>G	ENSP00000414834.1:n.479-329T>G
NM_001304361.1:c.413T>G	NP_001291290.1:p.Ile138Arg
NM_152515.4:c.908T>G	NP_689728.3:p.Ile303Arg
NR_130712.1:n.558-329T>G
XM_011510666.1:c.413T>G	XP_011508968.1:p.Ile138Arg
XM_011510666.2:c.413T>G	XP_011508968.1:p.Ile138Arg
NM_152515.5:c.908T>G MANE Select	NP_689728.3:p.Ile303Arg
NM_001304361.2:c.413T>G	NP_001291290.1:p.Ile138Arg
NR_130712.2:n.490-329T>G