Canonical Allele Identifier: CA1594830
Gene: ALK HGNC NCBI
COSMIC:
COSM4751917 (not active)
MyVariant.info:
GRCh38 chr2:g.29694927C>T
GRCh37 chr2:g.29917793C>T
Revel Score:
ENST00000389048 (MANE Select) 0.013
gnomAD v2:
2:29917793 C / T
gnomAD v3:
2:29694927 C / T
gnomAD v4:
chr2-29694927-C-T
Joint Max Group AF 0.00008994 (AMR)
Genomes Max Group AF 0.00013011 (AFR)
Exomes Max Group AF 0.00010427 (AMR)
ClinVar RCV:
RCV000473638
RCV002256241
ClinVar Variation:
404322
dbSNP:
149145987
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29694927C>T , CM000664.2:g.29694927C>T GRCh38
NC_000002.11:g.29917793C>T , CM000664.1:g.29917793C>T GRCh37
NC_000002.10:g.29771297C>T NCBI36
NG_009445.1:g.231640G>A , LRG_488:g.231640G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.875G>A MANE Select ENSP00000373700.3:p.Arg292His
ENST00000389048.7:c.875G>A ENSP00000373700.3:p.Arg292His
ENST00000618119.4:c.-257G>A ENSP00000482733.1:n.-257G>A
NM_004304.4:c.875G>A NP_004295.2:p.Arg292His
XR_001738688.2:n.1805G>A
NM_004304.5:c.875G>A MANE Select NP_004295.2:p.Arg292His
Search 100 bp 5'
Search 100 bp 3'