Canonical Allele Identifier: CA428554387
Gene: CKAP2L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.113514441G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756864G>A , CM000664.2:g.112756864G>A GRCh38
NC_000002.11:g.113514441G>A , CM000664.1:g.113514441G>A GRCh37
NC_000002.10:g.113230912G>A NCBI36
NG_041820.1:g.12814C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.507C>T MANE Select ENSP00000305204.6:p.Ile169=
ENST00000302450.10:c.507C>T ENSP00000305204.6:p.Ile169=
ENST00000435431.5:c.478+29C>T ENSP00000414834.1:n.478+29C>T
ENST00000481732.5:n.468C>T
NM_001304361.1:c.12C>T NP_001291290.1:p.Ile4=
NM_152515.4:c.507C>T NP_689728.3:p.Ile169=
NR_130712.1:n.557+29C>T
XM_011510666.1:c.12C>T XP_011508968.1:p.Ile4=
XM_011510666.2:c.12C>T XP_011508968.1:p.Ile4=
NM_152515.5:c.507C>T MANE Select NP_689728.3:p.Ile169=
NM_001304361.2:c.12C>T NP_001291290.1:p.Ile4=
NR_130712.2:n.489+29C>T