Canonical Allele Identifier: CA348297979

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756823-G-A
• MyVariant Identifiers: chr2:g.113514400G>A (hg19) ; chr2:g.112756823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756823G>A , CM000664.2:g.112756823G>A	GRCh38
NC_000002.11:g.113514400G>A , CM000664.1:g.113514400G>A	GRCh37
NC_000002.10:g.113230871G>A	NCBI36
NG_041820.1:g.12855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.548C>T MANE Select	ENSP00000305204.6:p.Thr183Ile
ENST00000302450.10:c.548C>T	ENSP00000305204.6:p.Thr183Ile
ENST00000435431.5:c.478+70C>T	ENSP00000414834.1:n.478+70C>T
ENST00000481732.5:n.509C>T
NM_001304361.1:c.53C>T	NP_001291290.1:p.Thr18Ile
NM_152515.4:c.548C>T	NP_689728.3:p.Thr183Ile
NR_130712.1:n.557+70C>T
XM_011510666.1:c.53C>T	XP_011508968.1:p.Thr18Ile
XM_011510666.2:c.53C>T	XP_011508968.1:p.Thr18Ile
NM_152515.5:c.548C>T MANE Select	NP_689728.3:p.Thr183Ile
NM_001304361.2:c.53C>T	NP_001291290.1:p.Thr18Ile
NR_130712.2:n.489+70C>T