Canonical Allele Identifier: CA1836835

Gene: CKAP2L

Linked Data

• dbSNP Id: rs146044547
• ExAC: 2:113514437 C / T
• gnomAD v2: 2-113514437-C-T
• gnomAD v3: 2-112756860-C-T
• gnomAD v4: 2-112756860-C-T
• MyVariant Identifiers: chr2:g.113514437C>T (hg19) ; chr2:g.112756860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756860C>T , CM000664.2:g.112756860C>T	GRCh38
NC_000002.11:g.113514437C>T , CM000664.1:g.113514437C>T	GRCh37
NC_000002.10:g.113230908C>T	NCBI36
NG_041820.1:g.12818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.511G>A MANE Select	ENSP00000305204.6:p.Val171Ile
ENST00000302450.10:c.511G>A	ENSP00000305204.6:p.Val171Ile
ENST00000435431.5:c.478+33G>A	ENSP00000414834.1:n.478+33G>A
ENST00000481732.5:n.472G>A
NM_001304361.1:c.16G>A	NP_001291290.1:p.Val6Ile
NM_152515.4:c.511G>A	NP_689728.3:p.Val171Ile
NR_130712.1:n.557+33G>A
XM_011510666.1:c.16G>A	XP_011508968.1:p.Val6Ile
XM_011510666.2:c.16G>A	XP_011508968.1:p.Val6Ile
NM_152515.5:c.511G>A MANE Select	NP_689728.3:p.Val171Ile
NM_001304361.2:c.16G>A	NP_001291290.1:p.Val6Ile
NR_130712.2:n.489+33G>A