Canonical Allele Identifier: CA348297332
Gene: CKAP2L HGNC NCBI

Linked Data

dbSNP Id: rs1229387771
gnomAD v2: 2-113514104-A-G
MyVariant Identifiers: chr2:g.113514104A>G (hg19) chr2:g.112756527A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756527A>G , CM000664.2:g.112756527A>G GRCh38
NC_000002.11:g.113514104A>G , CM000664.1:g.113514104A>G GRCh37
NC_000002.10:g.113230575A>G NCBI36
NG_041820.1:g.13151T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302450.11:c.844T>C MANE Select ENSP00000305204.6:p.Phe282Leu
ENST00000302450.10:c.844T>C ENSP00000305204.6:p.Phe282Leu
ENST00000435431.5:c.478+366T>C ENSP00000414834.1:n.478+366T>C
NM_001304361.1:c.349T>C NP_001291290.1:p.Phe117Leu
NM_152515.4:c.844T>C NP_689728.3:p.Phe282Leu
NR_130712.1:n.557+366T>C
XM_011510666.1:c.349T>C XP_011508968.1:p.Phe117Leu
XM_011510666.2:c.349T>C XP_011508968.1:p.Phe117Leu
NM_152515.5:c.844T>C MANE Select NP_689728.3:p.Phe282Leu
NM_001304361.2:c.349T>C NP_001291290.1:p.Phe117Leu
NR_130712.2:n.489+366T>C
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