Canonical Allele Identifier: CA348297772

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1201772233
• gnomAD v2: 2-113514307-T-C
• gnomAD v4: 2-112756730-T-C
• MyVariant Identifiers: chr2:g.113514307T>C (hg19) ; chr2:g.112756730T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756730T>C , CM000664.2:g.112756730T>C	GRCh38
NC_000002.11:g.113514307T>C , CM000664.1:g.113514307T>C	GRCh37
NC_000002.10:g.113230778T>C	NCBI36
NG_041820.1:g.12948A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.641A>G MANE Select	ENSP00000305204.6:p.Tyr214Cys
ENST00000302450.10:c.641A>G	ENSP00000305204.6:p.Tyr214Cys
ENST00000435431.5:c.478+163A>G	ENSP00000414834.1:n.478+163A>G
NM_001304361.1:c.146A>G	NP_001291290.1:p.Tyr49Cys
NM_152515.4:c.641A>G	NP_689728.3:p.Tyr214Cys
NR_130712.1:n.557+163A>G
XM_011510666.1:c.146A>G	XP_011508968.1:p.Tyr49Cys
XM_011510666.2:c.146A>G	XP_011508968.1:p.Tyr49Cys
NM_152515.5:c.641A>G MANE Select	NP_689728.3:p.Tyr214Cys
NM_001304361.2:c.146A>G	NP_001291290.1:p.Tyr49Cys
NR_130712.2:n.489+163A>G