Canonical Allele Identifier: CA1836820

Gene: CKAP2L

Linked Data

• dbSNP Id: rs757989419
• ExAC: 2:113514359 T / C
• gnomAD v2: 2-113514359-T-C
• gnomAD v4: 2-112756782-T-C
• MyVariant Identifiers: chr2:g.113514359T>C (hg19) ; chr2:g.112756782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756782T>C , CM000664.2:g.112756782T>C	GRCh38
NC_000002.11:g.113514359T>C , CM000664.1:g.113514359T>C	GRCh37
NC_000002.10:g.113230830T>C	NCBI36
NG_041820.1:g.12896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.589A>G MANE Select	ENSP00000305204.6:p.Arg197Gly
ENST00000302450.10:c.589A>G	ENSP00000305204.6:p.Arg197Gly
ENST00000435431.5:c.478+111A>G	ENSP00000414834.1:n.478+111A>G
ENST00000481732.5:n.550A>G
NM_001304361.1:c.94A>G	NP_001291290.1:p.Arg32Gly
NM_152515.4:c.589A>G	NP_689728.3:p.Arg197Gly
NR_130712.1:n.557+111A>G
XM_011510666.1:c.94A>G	XP_011508968.1:p.Arg32Gly
XM_011510666.2:c.94A>G	XP_011508968.1:p.Arg32Gly
NM_152515.5:c.589A>G MANE Select	NP_689728.3:p.Arg197Gly
NM_001304361.2:c.94A>G	NP_001291290.1:p.Arg32Gly
NR_130712.2:n.489+111A>G