Canonical Allele Identifier: CA348297318

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756520-C-A
• MyVariant Identifiers: chr2:g.113514097C>A (hg19) ; chr2:g.112756520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756520C>A , CM000664.2:g.112756520C>A	GRCh38
NC_000002.11:g.113514097C>A , CM000664.1:g.113514097C>A	GRCh37
NC_000002.10:g.113230568C>A	NCBI36
NG_041820.1:g.13158G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.851G>T MANE Select	ENSP00000305204.6:p.Arg284Leu
ENST00000302450.10:c.851G>T	ENSP00000305204.6:p.Arg284Leu
ENST00000435431.5:c.478+373G>T	ENSP00000414834.1:n.478+373G>T
NM_001304361.1:c.356G>T	NP_001291290.1:p.Arg119Leu
NM_152515.4:c.851G>T	NP_689728.3:p.Arg284Leu
NR_130712.1:n.557+373G>T
XM_011510666.1:c.356G>T	XP_011508968.1:p.Arg119Leu
XM_011510666.2:c.356G>T	XP_011508968.1:p.Arg119Leu
NM_152515.5:c.851G>T MANE Select	NP_689728.3:p.Arg284Leu
NM_001304361.2:c.356G>T	NP_001291290.1:p.Arg119Leu
NR_130712.2:n.489+373G>T