Canonical Allele Identifier: CA1594761
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29531921T>A
GRCh37 chr2:g.29754787T>A
Revel Score:
ENST00000389048 (MANE Select) 0.144
gnomAD v2:
2:29754787 T / A
gnomAD v3:
2:29531921 T / A
gnomAD v4:
chr2-29531921-T-A
Joint Max Group AF 0.00041301 (AFR)
Genomes Max Group AF 0.000438 (AFR)
Exomes Max Group AF 0.00027559 (AFR)
ClinVar RCV:
RCV000647404
RCV003226963
ClinVar Variation:
538201
dbSNP:
140928266
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29531921T>A , CM000664.2:g.29531921T>A GRCh38
NC_000002.11:g.29754787T>A , CM000664.1:g.29754787T>A GRCh37
NC_000002.10:g.29608291T>A NCBI36
NG_009445.1:g.394646A>T , LRG_488:g.394646A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1148A>T MANE Select ENSP00000373700.3:p.Lys383Met
ENST00000389048.7:c.1148A>T ENSP00000373700.3:p.Lys383Met
ENST00000618119.4:c.17A>T ENSP00000482733.1:p.Lys6Met
NM_004304.4:c.1148A>T NP_004295.2:p.Lys383Met
XR_001738688.2:n.2078A>T
NM_004304.5:c.1148A>T MANE Select NP_004295.2:p.Lys383Met
Search 100 bp 5'
Search 100 bp 3'