Canonical Allele Identifier: CA1836831

Gene: CKAP2L

Linked Data

• dbSNP Id: rs774551453
• ExAC: 2:113514405 T / A
• gnomAD v2: 2-113514405-T-A
• gnomAD v4: 2-112756828-T-A
• MyVariant Identifiers: chr2:g.113514405T>A (hg19) ; chr2:g.112756828T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756828T>A , CM000664.2:g.112756828T>A	GRCh38
NC_000002.11:g.113514405T>A , CM000664.1:g.113514405T>A	GRCh37
NC_000002.10:g.113230876T>A	NCBI36
NG_041820.1:g.12850A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.543A>T MANE Select	ENSP00000305204.6:p.Lys181Asn
ENST00000302450.10:c.543A>T	ENSP00000305204.6:p.Lys181Asn
ENST00000435431.5:c.478+65A>T	ENSP00000414834.1:n.478+65A>T
ENST00000481732.5:n.504A>T
NM_001304361.1:c.48A>T	NP_001291290.1:p.Lys16Asn
NM_152515.4:c.543A>T	NP_689728.3:p.Lys181Asn
NR_130712.1:n.557+65A>T
XM_011510666.1:c.48A>T	XP_011508968.1:p.Lys16Asn
XM_011510666.2:c.48A>T	XP_011508968.1:p.Lys16Asn
NM_152515.5:c.543A>T MANE Select	NP_689728.3:p.Lys181Asn
NM_001304361.2:c.48A>T	NP_001291290.1:p.Lys16Asn
NR_130712.2:n.489+65A>T