Canonical Allele Identifier: CA348297588

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1158505647
• gnomAD v2: 2-113514226-A-C
• gnomAD v4: 2-112756649-A-C
• MyVariant Identifiers: chr2:g.113514226A>C (hg19) ; chr2:g.112756649A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756649A>C , CM000664.2:g.112756649A>C	GRCh38
NC_000002.11:g.113514226A>C , CM000664.1:g.113514226A>C	GRCh37
NC_000002.10:g.113230697A>C	NCBI36
NG_041820.1:g.13029T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.722T>G MANE Select	ENSP00000305204.6:p.Val241Gly
ENST00000302450.10:c.722T>G	ENSP00000305204.6:p.Val241Gly
ENST00000435431.5:c.478+244T>G	ENSP00000414834.1:n.478+244T>G
NM_001304361.1:c.227T>G	NP_001291290.1:p.Val76Gly
NM_152515.4:c.722T>G	NP_689728.3:p.Val241Gly
NR_130712.1:n.557+244T>G
XM_011510666.1:c.227T>G	XP_011508968.1:p.Val76Gly
XM_011510666.2:c.227T>G	XP_011508968.1:p.Val76Gly
NM_152515.5:c.722T>G MANE Select	NP_689728.3:p.Val241Gly
NM_001304361.2:c.227T>G	NP_001291290.1:p.Val76Gly
NR_130712.2:n.489+244T>G