Canonical Allele Identifier: CA428554313

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756813-C-T
• MyVariant Identifiers: chr2:g.113514390C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756813C>T , CM000664.2:g.112756813C>T	GRCh38
NC_000002.11:g.113514390C>T , CM000664.1:g.113514390C>T	GRCh37
NC_000002.10:g.113230861C>T	NCBI36
NG_041820.1:g.12865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.558G>A MANE Select	ENSP00000305204.6:p.Glu186=
ENST00000302450.10:c.558G>A	ENSP00000305204.6:p.Glu186=
ENST00000435431.5:c.478+80G>A	ENSP00000414834.1:n.478+80G>A
ENST00000481732.5:n.519G>A
NM_001304361.1:c.63G>A	NP_001291290.1:p.Glu21=
NM_152515.4:c.558G>A	NP_689728.3:p.Glu186=
NR_130712.1:n.557+80G>A
XM_011510666.1:c.63G>A	XP_011508968.1:p.Glu21=
XM_011510666.2:c.63G>A	XP_011508968.1:p.Glu21=
NM_152515.5:c.558G>A MANE Select	NP_689728.3:p.Glu186=
NM_001304361.2:c.63G>A	NP_001291290.1:p.Glu21=
NR_130712.2:n.489+80G>A