Canonical Allele Identifier: CA1836806
Gene: CKAP2L HGNC NCBI

Linked Data

ClinVar Variation Id: 2228700
ClinVar RCV Id: RCV002692200
dbSNP Id: rs776622742
ExAC: 2:113514244 G / C
gnomAD v2: 2-113514244-G-C
gnomAD v3: 2-112756667-G-C
gnomAD v4: 2-112756667-G-C
MyVariant Identifiers: chr2:g.113514244G>C (hg19) chr2:g.112756667G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756667G>C , CM000664.2:g.112756667G>C GRCh38
NC_000002.11:g.113514244G>C , CM000664.1:g.113514244G>C GRCh37
NC_000002.10:g.113230715G>C NCBI36
NG_041820.1:g.13011C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.704C>G MANE Select ENSP00000305204.6:p.Ala235Gly
ENST00000302450.10:c.704C>G ENSP00000305204.6:p.Ala235Gly
ENST00000435431.5:c.478+226C>G ENSP00000414834.1:n.478+226C>G
NM_001304361.1:c.209C>G NP_001291290.1:p.Ala70Gly
NM_152515.4:c.704C>G NP_689728.3:p.Ala235Gly
NR_130712.1:n.557+226C>G
XM_011510666.1:c.209C>G XP_011508968.1:p.Ala70Gly
XM_011510666.2:c.209C>G XP_011508968.1:p.Ala70Gly
NM_152515.5:c.704C>G MANE Select NP_689728.3:p.Ala235Gly
NM_001304361.2:c.209C>G NP_001291290.1:p.Ala70Gly
NR_130712.2:n.489+226C>G
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