Canonical Allele Identifier: CA1594319
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29233635C>T
GRCh37 chr2:g.29456501C>T
Revel Score:
ENST00000389048 (MANE Select) 0.113
gnomAD v2:
2:29456501 C / T
gnomAD v3:
2:29233635 C / T
gnomAD v4:
chr2-29233635-C-T
Joint Max Group AF 0.00008998 (AMR)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00010427 (AMR)
ClinVar RCV:
RCV000539294
RCV002258963
ClinVar Variation:
470792
dbSNP:
761568836
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29233635C>T , CM000664.2:g.29233635C>T GRCh38
NC_000002.11:g.29456501C>T , CM000664.1:g.29456501C>T GRCh37
NC_000002.10:g.29310005C>T NCBI36
NG_009445.1:g.692932G>A , LRG_488:g.692932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.2417G>A MANE Select ENSP00000373700.3:p.Arg806His
ENST00000389048.7:c.2417G>A ENSP00000373700.3:p.Arg806His
ENST00000618119.4:c.1286G>A ENSP00000482733.1:p.Arg429His
NM_004304.4:c.2417G>A NP_004295.2:p.Arg806His
XR_001738688.2:n.3347G>A
NM_004304.5:c.2417G>A MANE Select NP_004295.2:p.Arg806His
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