Canonical Allele Identifier: CA428553864
Gene: CKAP2L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.113514264G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756687G>A , CM000664.2:g.112756687G>A GRCh38
NC_000002.11:g.113514264G>A , CM000664.1:g.113514264G>A GRCh37
NC_000002.10:g.113230735G>A NCBI36
NG_041820.1:g.12991C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.684C>T MANE Select ENSP00000305204.6:p.Gly228=
ENST00000302450.10:c.684C>T ENSP00000305204.6:p.Gly228=
ENST00000435431.5:c.478+206C>T ENSP00000414834.1:n.478+206C>T
NM_001304361.1:c.189C>T NP_001291290.1:p.Gly63=
NM_152515.4:c.684C>T NP_689728.3:p.Gly228=
NR_130712.1:n.557+206C>T
XM_011510666.1:c.189C>T XP_011508968.1:p.Gly63=
XM_011510666.2:c.189C>T XP_011508968.1:p.Gly63=
NM_152515.5:c.684C>T MANE Select NP_689728.3:p.Gly228=
NM_001304361.2:c.189C>T NP_001291290.1:p.Gly63=
NR_130712.2:n.489+206C>T