Canonical Allele Identifier: CA348297441

Gene: CKAP2L

Linked Data

• MyVariant Identifiers: chr2:g.113514158C>A (hg19) ; chr2:g.112756581C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756581C>A , CM000664.2:g.112756581C>A	GRCh38
NC_000002.11:g.113514158C>A , CM000664.1:g.113514158C>A	GRCh37
NC_000002.10:g.113230629C>A	NCBI36
NG_041820.1:g.13097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.790G>T MANE Select	ENSP00000305204.6:p.Gly264Ter
ENST00000302450.10:c.790G>T	ENSP00000305204.6:p.Gly264Ter
ENST00000435431.5:c.478+312G>T	ENSP00000414834.1:n.478+312G>T
NM_001304361.1:c.295G>T	NP_001291290.1:p.Gly99Ter
NM_152515.4:c.790G>T	NP_689728.3:p.Gly264Ter
NR_130712.1:n.557+312G>T
XM_011510666.1:c.295G>T	XP_011508968.1:p.Gly99Ter
XM_011510666.2:c.295G>T	XP_011508968.1:p.Gly99Ter
NM_152515.5:c.790G>T MANE Select	NP_689728.3:p.Gly264Ter
NM_001304361.2:c.295G>T	NP_001291290.1:p.Gly99Ter
NR_130712.2:n.489+312G>T