Canonical Allele Identifier: CA348297972

Gene: CKAP2L

Linked Data

• MyVariant Identifiers: chr2:g.113514396G>T (hg19) ; chr2:g.112756819G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756819G>T , CM000664.2:g.112756819G>T	GRCh38
NC_000002.11:g.113514396G>T , CM000664.1:g.113514396G>T	GRCh37
NC_000002.10:g.113230867G>T	NCBI36
NG_041820.1:g.12859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.552C>A MANE Select	ENSP00000305204.6:p.Asn184Lys
ENST00000302450.10:c.552C>A	ENSP00000305204.6:p.Asn184Lys
ENST00000435431.5:c.478+74C>A	ENSP00000414834.1:n.478+74C>A
ENST00000481732.5:n.513C>A
NM_001304361.1:c.57C>A	NP_001291290.1:p.Asn19Lys
NM_152515.4:c.552C>A	NP_689728.3:p.Asn184Lys
NR_130712.1:n.557+74C>A
XM_011510666.1:c.57C>A	XP_011508968.1:p.Asn19Lys
XM_011510666.2:c.57C>A	XP_011508968.1:p.Asn19Lys
NM_152515.5:c.552C>A MANE Select	NP_689728.3:p.Asn184Lys
NM_001304361.2:c.57C>A	NP_001291290.1:p.Asn19Lys
NR_130712.2:n.489+74C>A