Canonical Allele Identifier: CA428554342

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1377348163
• gnomAD v2: 2-113514408-T-C
• gnomAD v4: 2-112756831-T-C
• MyVariant Identifiers: chr2:g.113514408T>C (hg19) ; chr2:g.112756831T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756831T>C , CM000664.2:g.112756831T>C	GRCh38
NC_000002.11:g.113514408T>C , CM000664.1:g.113514408T>C	GRCh37
NC_000002.10:g.113230879T>C	NCBI36
NG_041820.1:g.12847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.540A>G MANE Select	ENSP00000305204.6:p.Leu180=
ENST00000302450.10:c.540A>G	ENSP00000305204.6:p.Leu180=
ENST00000435431.5:c.478+62A>G	ENSP00000414834.1:n.478+62A>G
ENST00000481732.5:n.501A>G
NM_001304361.1:c.45A>G	NP_001291290.1:p.Leu15=
NM_152515.4:c.540A>G	NP_689728.3:p.Leu180=
NR_130712.1:n.557+62A>G
XM_011510666.1:c.45A>G	XP_011508968.1:p.Leu15=
XM_011510666.2:c.45A>G	XP_011508968.1:p.Leu15=
NM_152515.5:c.540A>G MANE Select	NP_689728.3:p.Leu180=
NM_001304361.2:c.45A>G	NP_001291290.1:p.Leu15=
NR_130712.2:n.489+62A>G