Canonical Allele Identifier: CA428554052

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756516-G-A
• MyVariant Identifiers: chr2:g.113514093G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756516G>A , CM000664.2:g.112756516G>A	GRCh38
NC_000002.11:g.113514093G>A , CM000664.1:g.113514093G>A	GRCh37
NC_000002.10:g.113230564G>A	NCBI36
NG_041820.1:g.13162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.855C>T MANE Select	ENSP00000305204.6:p.Thr285=
ENST00000302450.10:c.855C>T	ENSP00000305204.6:p.Thr285=
ENST00000435431.5:c.478+377C>T	ENSP00000414834.1:n.478+377C>T
NM_001304361.1:c.360C>T	NP_001291290.1:p.Thr120=
NM_152515.4:c.855C>T	NP_689728.3:p.Thr285=
NR_130712.1:n.557+377C>T
XM_011510666.1:c.360C>T	XP_011508968.1:p.Thr120=
XM_011510666.2:c.360C>T	XP_011508968.1:p.Thr120=
NM_152515.5:c.855C>T MANE Select	NP_689728.3:p.Thr285=
NM_001304361.2:c.360C>T	NP_001291290.1:p.Thr120=
NR_130712.2:n.489+377C>T