Canonical Allele Identifier: CA348297536

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1294506754
• gnomAD v4: 2-112756625-G-T
• MyVariant Identifiers: chr2:g.113514202G>T (hg19) ; chr2:g.112756625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756625G>T , CM000664.2:g.112756625G>T	GRCh38
NC_000002.11:g.113514202G>T , CM000664.1:g.113514202G>T	GRCh37
NC_000002.10:g.113230673G>T	NCBI36
NG_041820.1:g.13053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.746C>A MANE Select	ENSP00000305204.6:p.Thr249Lys
ENST00000302450.10:c.746C>A	ENSP00000305204.6:p.Thr249Lys
ENST00000435431.5:c.478+268C>A	ENSP00000414834.1:n.478+268C>A
NM_001304361.1:c.251C>A	NP_001291290.1:p.Thr84Lys
NM_152515.4:c.746C>A	NP_689728.3:p.Thr249Lys
NR_130712.1:n.557+268C>A
XM_011510666.1:c.251C>A	XP_011508968.1:p.Thr84Lys
XM_011510666.2:c.251C>A	XP_011508968.1:p.Thr84Lys
NM_152515.5:c.746C>A MANE Select	NP_689728.3:p.Thr249Lys
NM_001304361.2:c.251C>A	NP_001291290.1:p.Thr84Lys
NR_130712.2:n.489+268C>A