Canonical Allele Identifier: CA53691209

Gene: CKAP2L

Linked Data

• dbSNP Id: rs751012449
• gnomAD v2: 2-113514051-G-A
• gnomAD v4: 2-112756474-G-A
• MyVariant Identifiers: chr2:g.113514051G>A (hg19) ; chr2:g.112756474G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756474G>A , CM000664.2:g.112756474G>A	GRCh38
NC_000002.11:g.113514051G>A , CM000664.1:g.113514051G>A	GRCh37
NC_000002.10:g.113230522G>A	NCBI36
NG_041820.1:g.13204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.897C>T MANE Select	ENSP00000305204.6:p.Asn299=
ENST00000302450.10:c.897C>T	ENSP00000305204.6:p.Asn299=
ENST00000435431.5:c.479-340C>T	ENSP00000414834.1:n.479-340C>T
NM_001304361.1:c.402C>T	NP_001291290.1:p.Asn134=
NM_152515.4:c.897C>T	NP_689728.3:p.Asn299=
NR_130712.1:n.558-340C>T
XM_011510666.1:c.402C>T	XP_011508968.1:p.Asn134=
XM_011510666.2:c.402C>T	XP_011508968.1:p.Asn134=
NM_152515.5:c.897C>T MANE Select	NP_689728.3:p.Asn299=
NM_001304361.2:c.402C>T	NP_001291290.1:p.Asn134=
NR_130712.2:n.490-340C>T