Canonical Allele Identifier: CA348297729

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756712-C-T
• MyVariant Identifiers: chr2:g.113514289C>T (hg19) ; chr2:g.112756712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756712C>T , CM000664.2:g.112756712C>T	GRCh38
NC_000002.11:g.113514289C>T , CM000664.1:g.113514289C>T	GRCh37
NC_000002.10:g.113230760C>T	NCBI36
NG_041820.1:g.12966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.659G>A MANE Select	ENSP00000305204.6:p.Ser220Asn
ENST00000302450.10:c.659G>A	ENSP00000305204.6:p.Ser220Asn
ENST00000435431.5:c.478+181G>A	ENSP00000414834.1:n.478+181G>A
NM_001304361.1:c.164G>A	NP_001291290.1:p.Ser55Asn
NM_152515.4:c.659G>A	NP_689728.3:p.Ser220Asn
NR_130712.1:n.557+181G>A
XM_011510666.1:c.164G>A	XP_011508968.1:p.Ser55Asn
XM_011510666.2:c.164G>A	XP_011508968.1:p.Ser55Asn
NM_152515.5:c.659G>A MANE Select	NP_689728.3:p.Ser220Asn
NM_001304361.2:c.164G>A	NP_001291290.1:p.Ser55Asn
NR_130712.2:n.489+181G>A