Canonical Allele Identifier: CA348298118

Gene: CKAP2L

Linked Data

• MyVariant Identifiers: chr2:g.113514458C>A (hg19) ; chr2:g.112756881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756881C>A , CM000664.2:g.112756881C>A	GRCh38
NC_000002.11:g.113514458C>A , CM000664.1:g.113514458C>A	GRCh37
NC_000002.10:g.113230929C>A	NCBI36
NG_041820.1:g.12797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.490G>T MANE Select	ENSP00000305204.6:p.Asp164Tyr
ENST00000302450.10:c.490G>T	ENSP00000305204.6:p.Asp164Tyr
ENST00000435431.5:c.478+12G>T	ENSP00000414834.1:n.478+12G>T
ENST00000481732.5:n.451G>T
NM_001304361.1:c.-6G>T	NP_001291290.1:n.-6G>T
NM_152515.4:c.490G>T	NP_689728.3:p.Asp164Tyr
NR_130712.1:n.557+12G>T
XM_011510666.1:c.-6G>T	XP_011508968.1:n.-6G>T
XM_011510666.2:c.-6G>T	XP_011508968.1:n.-6G>T
NM_152515.5:c.490G>T MANE Select	NP_689728.3:p.Asp164Tyr
NM_001304361.2:c.-6G>T	NP_001291290.1:n.-6G>T
NR_130712.2:n.489+12G>T