Canonical Allele Identifier: CA348298098

Gene: CKAP2L

Linked Data

• dbSNP Id: rs758638641
• gnomAD v2: 2-113514450-C-T
• gnomAD v4: 2-112756873-C-T
• MyVariant Identifiers: chr2:g.113514450C>T (hg19) ; chr2:g.112756873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756873C>T , CM000664.2:g.112756873C>T	GRCh38
NC_000002.11:g.113514450C>T , CM000664.1:g.113514450C>T	GRCh37
NC_000002.10:g.113230921C>T	NCBI36
NG_041820.1:g.12805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.498G>A MANE Select	ENSP00000305204.6:p.Met166Ile
ENST00000302450.10:c.498G>A	ENSP00000305204.6:p.Met166Ile
ENST00000435431.5:c.478+20G>A	ENSP00000414834.1:n.478+20G>A
ENST00000481732.5:n.459G>A
NM_001304361.1:c.3G>A	NP_001291290.1:p.Met1Ile
NM_152515.4:c.498G>A	NP_689728.3:p.Met166Ile
NR_130712.1:n.557+20G>A
XM_011510666.1:c.3G>A	XP_011508968.1:p.Met1Ile
XM_011510666.2:c.3G>A	XP_011508968.1:p.Met1Ile
NM_152515.5:c.498G>A MANE Select	NP_689728.3:p.Met166Ile
NM_001304361.2:c.3G>A	NP_001291290.1:p.Met1Ile
NR_130712.2:n.489+20G>A