Canonical Allele Identifier: CA428553860
Gene: CKAP2L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.113514261T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756684T>C , CM000664.2:g.112756684T>C GRCh38
NC_000002.11:g.113514261T>C , CM000664.1:g.113514261T>C GRCh37
NC_000002.10:g.113230732T>C NCBI36
NG_041820.1:g.12994A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.687A>G MANE Select ENSP00000305204.6:p.Lys229=
ENST00000302450.10:c.687A>G ENSP00000305204.6:p.Lys229=
ENST00000435431.5:c.478+209A>G ENSP00000414834.1:n.478+209A>G
NM_001304361.1:c.192A>G NP_001291290.1:p.Lys64=
NM_152515.4:c.687A>G NP_689728.3:p.Lys229=
NR_130712.1:n.557+209A>G
XM_011510666.1:c.192A>G XP_011508968.1:p.Lys64=
XM_011510666.2:c.192A>G XP_011508968.1:p.Lys64=
NM_152515.5:c.687A>G MANE Select NP_689728.3:p.Lys229=
NM_001304361.2:c.192A>G NP_001291290.1:p.Lys64=
NR_130712.2:n.489+209A>G