Canonical Allele Identifier: CA1836828

Gene: CKAP2L

Linked Data

• dbSNP Id: rs749306162
• ExAC: 2:113514388 T / C
• gnomAD v2: 2-113514388-T-C
• gnomAD v4: 2-112756811-T-C
• COSMIC: COSM1005617
• MyVariant Identifiers: chr2:g.113514388T>C (hg19) ; chr2:g.112756811T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756811T>C , CM000664.2:g.112756811T>C	GRCh38
NC_000002.11:g.113514388T>C , CM000664.1:g.113514388T>C	GRCh37
NC_000002.10:g.113230859T>C	NCBI36
NG_041820.1:g.12867A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.560A>G MANE Select	ENSP00000305204.6:p.Asn187Ser
ENST00000302450.10:c.560A>G	ENSP00000305204.6:p.Asn187Ser
ENST00000435431.5:c.478+82A>G	ENSP00000414834.1:n.478+82A>G
ENST00000481732.5:n.521A>G
NM_001304361.1:c.65A>G	NP_001291290.1:p.Asn22Ser
NM_152515.4:c.560A>G	NP_689728.3:p.Asn187Ser
NR_130712.1:n.557+82A>G
XM_011510666.1:c.65A>G	XP_011508968.1:p.Asn22Ser
XM_011510666.2:c.65A>G	XP_011508968.1:p.Asn22Ser
NM_152515.5:c.560A>G MANE Select	NP_689728.3:p.Asn187Ser
NM_001304361.2:c.65A>G	NP_001291290.1:p.Asn22Ser
NR_130712.2:n.489+82A>G