Canonical Allele Identifier: CA1594302
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29233573C>T
GRCh37 chr2:g.29456439C>T
Revel Score:
ENST00000389048 (MANE Select) 0.018
gnomAD v2:
2:29456439 C / T
gnomAD v3:
2:29233573 C / T
gnomAD v4:
chr2-29233573-C-T
Joint Max Group AF 0.0000103 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV000542818
RCV002456188
ClinVar Variation:
470795
dbSNP:
756963896
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29233573C>T , CM000664.2:g.29233573C>T GRCh38
NC_000002.11:g.29456439C>T , CM000664.1:g.29456439C>T GRCh37
NC_000002.10:g.29309943C>T NCBI36
NG_009445.1:g.692994G>A , LRG_488:g.692994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.2479G>A MANE Select ENSP00000373700.3:p.Val827Ile
ENST00000389048.7:c.2479G>A ENSP00000373700.3:p.Val827Ile
ENST00000618119.4:c.1348G>A ENSP00000482733.1:p.Val450Ile
NM_004304.4:c.2479G>A NP_004295.2:p.Val827Ile
XR_001738688.2:n.3409G>A
NM_004304.5:c.2479G>A MANE Select NP_004295.2:p.Val827Ile
Search 100 bp 5'
Search 100 bp 3'