Canonical Allele Identifier: CA348298143

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1300303647
• gnomAD v2: 2-113514469-C-T
• gnomAD v3: 2-112756892-C-T
• gnomAD v4: 2-112756892-C-T
• MyVariant Identifiers: chr2:g.113514469C>T (hg19) ; chr2:g.112756892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756892C>T , CM000664.2:g.112756892C>T	GRCh38
NC_000002.11:g.113514469C>T , CM000664.1:g.113514469C>T	GRCh37
NC_000002.10:g.113230940C>T	NCBI36
NG_041820.1:g.12786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.479G>A MANE Select	ENSP00000305204.6:p.Gly160Asp
ENST00000302450.10:c.479G>A	ENSP00000305204.6:p.Gly160Asp
ENST00000435431.5:c.478+1G>A	ENSP00000414834.1:n.478+1G>A
ENST00000481732.5:n.440G>A
NM_001304361.1:c.-17G>A	NP_001291290.1:n.-17G>A
NM_152515.4:c.479G>A	NP_689728.3:p.Gly160Asp
NR_130712.1:n.557+1G>A
XM_011510666.1:c.-17G>A	XP_011508968.1:n.-17G>A
XM_011510666.2:c.-17G>A	XP_011508968.1:n.-17G>A
NM_152515.5:c.479G>A MANE Select	NP_689728.3:p.Gly160Asp
NM_001304361.2:c.-17G>A	NP_001291290.1:n.-17G>A
NR_130712.2:n.489+1G>A