Canonical Allele Identifier: CA348298091

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756871-T-G
• MyVariant Identifiers: chr2:g.113514448T>G (hg19) ; chr2:g.112756871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756871T>G , CM000664.2:g.112756871T>G	GRCh38
NC_000002.11:g.113514448T>G , CM000664.1:g.113514448T>G	GRCh37
NC_000002.10:g.113230919T>G	NCBI36
NG_041820.1:g.12807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.500A>C MANE Select	ENSP00000305204.6:p.Asn167Thr
ENST00000302450.10:c.500A>C	ENSP00000305204.6:p.Asn167Thr
ENST00000435431.5:c.478+22A>C	ENSP00000414834.1:n.478+22A>C
ENST00000481732.5:n.461A>C
NM_001304361.1:c.5A>C	NP_001291290.1:p.Asn2Thr
NM_152515.4:c.500A>C	NP_689728.3:p.Asn167Thr
NR_130712.1:n.557+22A>C
XM_011510666.1:c.5A>C	XP_011508968.1:p.Asn2Thr
XM_011510666.2:c.5A>C	XP_011508968.1:p.Asn2Thr
NM_152515.5:c.500A>C MANE Select	NP_689728.3:p.Asn167Thr
NM_001304361.2:c.5A>C	NP_001291290.1:p.Asn2Thr
NR_130712.2:n.489+22A>C