Canonical Allele Identifier: CA428554273
Gene: CKAP2L HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.113514369T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756792T>G , CM000664.2:g.112756792T>G GRCh38
NC_000002.11:g.113514369T>G , CM000664.1:g.113514369T>G GRCh37
NC_000002.10:g.113230840T>G NCBI36
NG_041820.1:g.12886A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.579A>C MANE Select ENSP00000305204.6:p.Thr193=
ENST00000302450.10:c.579A>C ENSP00000305204.6:p.Thr193=
ENST00000435431.5:c.478+101A>C ENSP00000414834.1:n.478+101A>C
ENST00000481732.5:n.540A>C
NM_001304361.1:c.84A>C NP_001291290.1:p.Thr28=
NM_152515.4:c.579A>C NP_689728.3:p.Thr193=
NR_130712.1:n.557+101A>C
XM_011510666.1:c.84A>C XP_011508968.1:p.Thr28=
XM_011510666.2:c.84A>C XP_011508968.1:p.Thr28=
NM_152515.5:c.579A>C MANE Select NP_689728.3:p.Thr193=
NM_001304361.2:c.84A>C NP_001291290.1:p.Thr28=
NR_130712.2:n.489+101A>C