Canonical Allele Identifier: CA1594724
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29383824T>A
GRCh37 chr2:g.29606690T>A
Revel Score:
ENST00000389048 (MANE Select) 0.053
gnomAD v2:
2:29606690 T / A
gnomAD v3:
2:29383824 T / A
gnomAD v4:
chr2-29383824-T-A
Joint Max Group AF 0.00006234 (AFR)
Genomes Max Group AF 0.00006282 (AFR)
Exomes Max Group AF 0.00002375 (AFR)
ClinVar RCV:
RCV000462810
ClinVar Variation:
404390
dbSNP:
368122868
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29383824T>A , CM000664.2:g.29383824T>A GRCh38
NC_000002.11:g.29606690T>A , CM000664.1:g.29606690T>A GRCh37
NC_000002.10:g.29460194T>A NCBI36
NG_009445.1:g.542743A>T , LRG_488:g.542743A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1190A>T MANE Select ENSP00000373700.3:p.Asp397Val
ENST00000389048.7:c.1190A>T ENSP00000373700.3:p.Asp397Val
ENST00000618119.4:c.59A>T ENSP00000482733.1:p.Asp20Val
NM_004304.4:c.1190A>T NP_004295.2:p.Asp397Val
XR_001738688.2:n.2120A>T
NM_004304.5:c.1190A>T MANE Select NP_004295.2:p.Asp397Val
Search 100 bp 5'
Search 100 bp 3'