Canonical Allele Identifier: CA348297131

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756434-G-T
• MyVariant Identifiers: chr2:g.113514011G>T (hg19) ; chr2:g.112756434G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756434G>T , CM000664.2:g.112756434G>T	GRCh38
NC_000002.11:g.113514011G>T , CM000664.1:g.113514011G>T	GRCh37
NC_000002.10:g.113230482G>T	NCBI36
NG_041820.1:g.13244C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.937C>A MANE Select	ENSP00000305204.6:p.Pro313Thr
ENST00000302450.10:c.937C>A	ENSP00000305204.6:p.Pro313Thr
ENST00000435431.5:c.479-300C>A	ENSP00000414834.1:n.479-300C>A
NM_001304361.1:c.442C>A	NP_001291290.1:p.Pro148Thr
NM_152515.4:c.937C>A	NP_689728.3:p.Pro313Thr
NR_130712.1:n.558-300C>A
XM_011510666.1:c.442C>A	XP_011508968.1:p.Pro148Thr
XM_011510666.2:c.442C>A	XP_011508968.1:p.Pro148Thr
NM_152515.5:c.937C>A MANE Select	NP_689728.3:p.Pro313Thr
NM_001304361.2:c.442C>A	NP_001291290.1:p.Pro148Thr
NR_130712.2:n.490-300C>A