Canonical Allele Identifier: CA53691199

Gene: CKAP2L

Linked Data

• dbSNP Id: rs753907689
• gnomAD v2: 2-113514044-C-G
• gnomAD v3: 2-112756467-C-G
• gnomAD v4: 2-112756467-C-G
• MyVariant Identifiers: chr2:g.113514044C>G (hg19) ; chr2:g.112756467C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756467C>G , CM000664.2:g.112756467C>G	GRCh38
NC_000002.11:g.113514044C>G , CM000664.1:g.113514044C>G	GRCh37
NC_000002.10:g.113230515C>G	NCBI36
NG_041820.1:g.13211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.904G>C MANE Select	ENSP00000305204.6:p.Asp302His
ENST00000302450.10:c.904G>C	ENSP00000305204.6:p.Asp302His
ENST00000435431.5:c.479-333G>C	ENSP00000414834.1:n.479-333G>C
NM_001304361.1:c.409G>C	NP_001291290.1:p.Asp137His
NM_152515.4:c.904G>C	NP_689728.3:p.Asp302His
NR_130712.1:n.558-333G>C
XM_011510666.1:c.409G>C	XP_011508968.1:p.Asp137His
XM_011510666.2:c.409G>C	XP_011508968.1:p.Asp137His
NM_152515.5:c.904G>C MANE Select	NP_689728.3:p.Asp302His
NM_001304361.2:c.409G>C	NP_001291290.1:p.Asp137His
NR_130712.2:n.490-333G>C