Canonical Allele Identifier: CA348298133

Gene: CKAP2L

Linked Data

• MyVariant Identifiers: chr2:g.113514464A>T (hg19) ; chr2:g.112756887A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756887A>T , CM000664.2:g.112756887A>T	GRCh38
NC_000002.11:g.113514464A>T , CM000664.1:g.113514464A>T	GRCh37
NC_000002.10:g.113230935A>T	NCBI36
NG_041820.1:g.12791T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.484T>A MANE Select	ENSP00000305204.6:p.Cys162Ser
ENST00000302450.10:c.484T>A	ENSP00000305204.6:p.Cys162Ser
ENST00000435431.5:c.478+6T>A	ENSP00000414834.1:n.478+6T>A
ENST00000481732.5:n.445T>A
NM_001304361.1:c.-12T>A	NP_001291290.1:n.-12T>A
NM_152515.4:c.484T>A	NP_689728.3:p.Cys162Ser
NR_130712.1:n.557+6T>A
XM_011510666.1:c.-12T>A	XP_011508968.1:n.-12T>A
XM_011510666.2:c.-12T>A	XP_011508968.1:n.-12T>A
NM_152515.5:c.484T>A MANE Select	NP_689728.3:p.Cys162Ser
NM_001304361.2:c.-12T>A	NP_001291290.1:n.-12T>A
NR_130712.2:n.489+6T>A