Canonical Allele Identifier: CA428554032
Gene: CKAP2L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.113514075T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756498T>G , CM000664.2:g.112756498T>G GRCh38
NC_000002.11:g.113514075T>G , CM000664.1:g.113514075T>G GRCh37
NC_000002.10:g.113230546T>G NCBI36
NG_041820.1:g.13180A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.873A>C MANE Select ENSP00000305204.6:p.Ser291=
ENST00000302450.10:c.873A>C ENSP00000305204.6:p.Ser291=
ENST00000435431.5:c.479-364A>C ENSP00000414834.1:n.479-364A>C
NM_001304361.1:c.378A>C NP_001291290.1:p.Ser126=
NM_152515.4:c.873A>C NP_689728.3:p.Ser291=
NR_130712.1:n.558-364A>C
XM_011510666.1:c.378A>C XP_011508968.1:p.Ser126=
XM_011510666.2:c.378A>C XP_011508968.1:p.Ser126=
NM_152515.5:c.873A>C MANE Select NP_689728.3:p.Ser291=
NM_001304361.2:c.378A>C NP_001291290.1:p.Ser126=
NR_130712.2:n.490-364A>C