Canonical Allele Identifier: CA348297681

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756691-A-C
• MyVariant Identifiers: chr2:g.113514268A>C (hg19) ; chr2:g.112756691A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756691A>C , CM000664.2:g.112756691A>C	GRCh38
NC_000002.11:g.113514268A>C , CM000664.1:g.113514268A>C	GRCh37
NC_000002.10:g.113230739A>C	NCBI36
NG_041820.1:g.12987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.680T>G MANE Select	ENSP00000305204.6:p.Leu227Trp
ENST00000302450.10:c.680T>G	ENSP00000305204.6:p.Leu227Trp
ENST00000435431.5:c.478+202T>G	ENSP00000414834.1:n.478+202T>G
NM_001304361.1:c.185T>G	NP_001291290.1:p.Leu62Trp
NM_152515.4:c.680T>G	NP_689728.3:p.Leu227Trp
NR_130712.1:n.557+202T>G
XM_011510666.1:c.185T>G	XP_011508968.1:p.Leu62Trp
XM_011510666.2:c.185T>G	XP_011508968.1:p.Leu62Trp
NM_152515.5:c.680T>G MANE Select	NP_689728.3:p.Leu227Trp
NM_001304361.2:c.185T>G	NP_001291290.1:p.Leu62Trp
NR_130712.2:n.489+202T>G