Canonical Allele Identifier: CA348297841

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1401858466
• gnomAD v2: 2-113514337-T-C
• gnomAD v3: 2-112756760-T-C
• gnomAD v4: 2-112756760-T-C
• MyVariant Identifiers: chr2:g.113514337T>C (hg19) ; chr2:g.112756760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756760T>C , CM000664.2:g.112756760T>C	GRCh38
NC_000002.11:g.113514337T>C , CM000664.1:g.113514337T>C	GRCh37
NC_000002.10:g.113230808T>C	NCBI36
NG_041820.1:g.12918A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.611A>G MANE Select	ENSP00000305204.6:p.Tyr204Cys
ENST00000302450.10:c.611A>G	ENSP00000305204.6:p.Tyr204Cys
ENST00000435431.5:c.478+133A>G	ENSP00000414834.1:n.478+133A>G
NM_001304361.1:c.116A>G	NP_001291290.1:p.Tyr39Cys
NM_152515.4:c.611A>G	NP_689728.3:p.Tyr204Cys
NR_130712.1:n.557+133A>G
XM_011510666.1:c.116A>G	XP_011508968.1:p.Tyr39Cys
XM_011510666.2:c.116A>G	XP_011508968.1:p.Tyr39Cys
NM_152515.5:c.611A>G MANE Select	NP_689728.3:p.Tyr204Cys
NM_001304361.2:c.116A>G	NP_001291290.1:p.Tyr39Cys
NR_130712.2:n.489+133A>G