Canonical Allele Identifier: CA1594725
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29383825C>T
GRCh37 chr2:g.29606691C>T
Revel Score:
ENST00000389048 (MANE Select) 0.133
gnomAD v2:
2:29606691 C / T
gnomAD v3:
2:29383825 C / T
gnomAD v4:
chr2-29383825-C-T
Joint Max Group AF 0.00005821 (MID)
Exomes Max Group AF 0.0000183 (NFE)
ClinVar RCV:
RCV000536445
ClinVar Variation:
470741
dbSNP:
747810439
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29383825C>T , CM000664.2:g.29383825C>T GRCh38
NC_000002.11:g.29606691C>T , CM000664.1:g.29606691C>T GRCh37
NC_000002.10:g.29460195C>T NCBI36
NG_009445.1:g.542742G>A , LRG_488:g.542742G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1189G>A MANE Select ENSP00000373700.3:p.Asp397Asn
ENST00000389048.7:c.1189G>A ENSP00000373700.3:p.Asp397Asn
ENST00000618119.4:c.58G>A ENSP00000482733.1:p.Asp20Asn
NM_004304.4:c.1189G>A NP_004295.2:p.Asp397Asn
XR_001738688.2:n.2119G>A
NM_004304.5:c.1189G>A MANE Select NP_004295.2:p.Asp397Asn
Search 100 bp 5'
Search 100 bp 3'