Canonical Allele Identifier: CA1836793

Gene: CKAP2L

Linked Data

• dbSNP Id: rs763203294
• ExAC: 2:113514181 A / G
• gnomAD v2: 2-113514181-A-G
• gnomAD v4: 2-112756604-A-G
• MyVariant Identifiers: chr2:g.113514181A>G (hg19) ; chr2:g.112756604A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756604A>G , CM000664.2:g.112756604A>G	GRCh38
NC_000002.11:g.113514181A>G , CM000664.1:g.113514181A>G	GRCh37
NC_000002.10:g.113230652A>G	NCBI36
NG_041820.1:g.13074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.767T>C MANE Select	ENSP00000305204.6:p.Val256Ala
ENST00000302450.10:c.767T>C	ENSP00000305204.6:p.Val256Ala
ENST00000435431.5:c.478+289T>C	ENSP00000414834.1:n.478+289T>C
NM_001304361.1:c.272T>C	NP_001291290.1:p.Val91Ala
NM_152515.4:c.767T>C	NP_689728.3:p.Val256Ala
NR_130712.1:n.557+289T>C
XM_011510666.1:c.272T>C	XP_011508968.1:p.Val91Ala
XM_011510666.2:c.272T>C	XP_011508968.1:p.Val91Ala
NM_152515.5:c.767T>C MANE Select	NP_689728.3:p.Val256Ala
NM_001304361.2:c.272T>C	NP_001291290.1:p.Val91Ala
NR_130712.2:n.489+289T>C