Canonical Allele Identifier: CA348298072

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756863-G-A
• MyVariant Identifiers: chr2:g.113514440G>A (hg19) ; chr2:g.112756863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756863G>A , CM000664.2:g.112756863G>A	GRCh38
NC_000002.11:g.113514440G>A , CM000664.1:g.113514440G>A	GRCh37
NC_000002.10:g.113230911G>A	NCBI36
NG_041820.1:g.12815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.508C>T MANE Select	ENSP00000305204.6:p.His170Tyr
ENST00000302450.10:c.508C>T	ENSP00000305204.6:p.His170Tyr
ENST00000435431.5:c.478+30C>T	ENSP00000414834.1:n.478+30C>T
ENST00000481732.5:n.469C>T
NM_001304361.1:c.13C>T	NP_001291290.1:p.His5Tyr
NM_152515.4:c.508C>T	NP_689728.3:p.His170Tyr
NR_130712.1:n.557+30C>T
XM_011510666.1:c.13C>T	XP_011508968.1:p.His5Tyr
XM_011510666.2:c.13C>T	XP_011508968.1:p.His5Tyr
NM_152515.5:c.508C>T MANE Select	NP_689728.3:p.His170Tyr
NM_001304361.2:c.13C>T	NP_001291290.1:p.His5Tyr
NR_130712.2:n.489+30C>T