Canonical Allele Identifier: CA348297578

Gene: CKAP2L

Linked Data

• MyVariant Identifiers: chr2:g.113514221T>C (hg19) ; chr2:g.112756644T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756644T>C , CM000664.2:g.112756644T>C	GRCh38
NC_000002.11:g.113514221T>C , CM000664.1:g.113514221T>C	GRCh37
NC_000002.10:g.113230692T>C	NCBI36
NG_041820.1:g.13034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.727A>G MANE Select	ENSP00000305204.6:p.Lys243Glu
ENST00000302450.10:c.727A>G	ENSP00000305204.6:p.Lys243Glu
ENST00000435431.5:c.478+249A>G	ENSP00000414834.1:n.478+249A>G
NM_001304361.1:c.232A>G	NP_001291290.1:p.Lys78Glu
NM_152515.4:c.727A>G	NP_689728.3:p.Lys243Glu
NR_130712.1:n.557+249A>G
XM_011510666.1:c.232A>G	XP_011508968.1:p.Lys78Glu
XM_011510666.2:c.232A>G	XP_011508968.1:p.Lys78Glu
NM_152515.5:c.727A>G MANE Select	NP_689728.3:p.Lys243Glu
NM_001304361.2:c.232A>G	NP_001291290.1:p.Lys78Glu
NR_130712.2:n.489+249A>G