Canonical Allele Identifier: CA428553913
Gene: CKAP2L HGNC NCBI

Linked Data

dbSNP Id: rs1680552402
MyVariant Identifiers: chr2:g.113514288A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756711A>G , CM000664.2:g.112756711A>G GRCh38
NC_000002.11:g.113514288A>G , CM000664.1:g.113514288A>G GRCh37
NC_000002.10:g.113230759A>G NCBI36
NG_041820.1:g.12967T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.660T>C MANE Select ENSP00000305204.6:p.Ser220=
ENST00000302450.10:c.660T>C ENSP00000305204.6:p.Ser220=
ENST00000435431.5:c.478+182T>C ENSP00000414834.1:n.478+182T>C
NM_001304361.1:c.165T>C NP_001291290.1:p.Ser55=
NM_152515.4:c.660T>C NP_689728.3:p.Ser220=
NR_130712.1:n.557+182T>C
XM_011510666.1:c.165T>C XP_011508968.1:p.Ser55=
XM_011510666.2:c.165T>C XP_011508968.1:p.Ser55=
NM_152515.5:c.660T>C MANE Select NP_689728.3:p.Ser220=
NM_001304361.2:c.165T>C NP_001291290.1:p.Ser55=
NR_130712.2:n.489+182T>C