Canonical Allele Identifier: CA348298013

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756837-G-C
• MyVariant Identifiers: chr2:g.113514414G>C (hg19) ; chr2:g.112756837G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756837G>C , CM000664.2:g.112756837G>C	GRCh38
NC_000002.11:g.113514414G>C , CM000664.1:g.113514414G>C	GRCh37
NC_000002.10:g.113230885G>C	NCBI36
NG_041820.1:g.12841C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.534C>G MANE Select	ENSP00000305204.6:p.Asn178Lys
ENST00000302450.10:c.534C>G	ENSP00000305204.6:p.Asn178Lys
ENST00000435431.5:c.478+56C>G	ENSP00000414834.1:n.478+56C>G
ENST00000481732.5:n.495C>G
NM_001304361.1:c.39C>G	NP_001291290.1:p.Asn13Lys
NM_152515.4:c.534C>G	NP_689728.3:p.Asn178Lys
NR_130712.1:n.557+56C>G
XM_011510666.1:c.39C>G	XP_011508968.1:p.Asn13Lys
XM_011510666.2:c.39C>G	XP_011508968.1:p.Asn13Lys
NM_152515.5:c.534C>G MANE Select	NP_689728.3:p.Asn178Lys
NM_001304361.2:c.39C>G	NP_001291290.1:p.Asn13Lys
NR_130712.2:n.489+56C>G