Canonical Allele Identifier: CA348297537

Gene: CKAP2L

Linked Data

• MyVariant Identifiers: chr2:g.113514203T>A (hg19) ; chr2:g.112756626T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756626T>A , CM000664.2:g.112756626T>A	GRCh38
NC_000002.11:g.113514203T>A , CM000664.1:g.113514203T>A	GRCh37
NC_000002.10:g.113230674T>A	NCBI36
NG_041820.1:g.13052A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.745A>T MANE Select	ENSP00000305204.6:p.Thr249Ser
ENST00000302450.10:c.745A>T	ENSP00000305204.6:p.Thr249Ser
ENST00000435431.5:c.478+267A>T	ENSP00000414834.1:n.478+267A>T
NM_001304361.1:c.250A>T	NP_001291290.1:p.Thr84Ser
NM_152515.4:c.745A>T	NP_689728.3:p.Thr249Ser
NR_130712.1:n.557+267A>T
XM_011510666.1:c.250A>T	XP_011508968.1:p.Thr84Ser
XM_011510666.2:c.250A>T	XP_011508968.1:p.Thr84Ser
NM_152515.5:c.745A>T MANE Select	NP_689728.3:p.Thr249Ser
NM_001304361.2:c.250A>T	NP_001291290.1:p.Thr84Ser
NR_130712.2:n.489+267A>T