Canonical Allele Identifier: CA1594566
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29297053C>T
GRCh37 chr2:g.29519919C>T
Revel Score:
ENST00000389048 (MANE Select) 0.061
gnomAD v2:
2:29519919 C / T
gnomAD v3:
2:29297053 C / T
gnomAD v4:
chr2-29297053-C-T
Joint Max Group AF 0.00010202 (AMR)
Genomes Max Group AF 0.00005286 (AMR)
Exomes Max Group AF 0.00008862 (AMR)
ClinVar RCV:
RCV000460471
ClinVar Variation:
404361
dbSNP:
374136388
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29297053C>T , CM000664.2:g.29297053C>T GRCh38
NC_000002.11:g.29519919C>T , CM000664.1:g.29519919C>T GRCh37
NC_000002.10:g.29373423C>T NCBI36
NG_009445.1:g.629514G>A , LRG_488:g.629514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1652G>A MANE Select ENSP00000373700.3:p.Arg551Gln
ENST00000389048.7:c.1652G>A ENSP00000373700.3:p.Arg551Gln
ENST00000498037.1:n.207G>A
ENST00000618119.4:c.521G>A ENSP00000482733.1:p.Arg174Gln
NM_004304.4:c.1652G>A NP_004295.2:p.Arg551Gln
XR_001738688.2:n.2582G>A
NM_004304.5:c.1652G>A MANE Select NP_004295.2:p.Arg551Gln
Search 100 bp 5'
Search 100 bp 3'