Canonical Allele Identifier: CA1594321
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29233636G>A
GRCh37 chr2:g.29456502G>A
Revel Score:
ENST00000389048 (MANE Select) 0.167
gnomAD v2:
2:29456502 G / A
gnomAD v3:
2:29233636 G / A
gnomAD v4:
chr2-29233636-G-A
Joint Max Group AF 0.0001535 (AMR)
Genomes Max Group AF 0.00030653 (AMR)
Exomes Max Group AF 0.0000975 (AFR)
ClinVar RCV:
RCV000459873
RCV003409611
ClinVar Variation:
404347
dbSNP:
80227749
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29233636G>A , CM000664.2:g.29233636G>A GRCh38
NC_000002.11:g.29456502G>A , CM000664.1:g.29456502G>A GRCh37
NC_000002.10:g.29310006G>A NCBI36
NG_009445.1:g.692931C>T , LRG_488:g.692931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.2416C>T MANE Select ENSP00000373700.3:p.Arg806Cys
ENST00000389048.7:c.2416C>T ENSP00000373700.3:p.Arg806Cys
ENST00000618119.4:c.1285C>T ENSP00000482733.1:p.Arg429Cys
NM_004304.4:c.2416C>T NP_004295.2:p.Arg806Cys
XR_001738688.2:n.3346C>T
NM_004304.5:c.2416C>T MANE Select NP_004295.2:p.Arg806Cys
Search 100 bp 5'
Search 100 bp 3'