Canonical Allele Identifier: CA346474186
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 1771224
ClinVar RCV Id: RCV002381102 RCV003095061
dbSNP Id: rs1425067580
gnomAD v2: 2-29551252-C-T
gnomAD v3: 2-29328386-C-T
gnomAD v4: 2-29328386-C-T
MyVariant Identifiers: chr2:g.29551252C>T (hg19) chr2:g.29328386C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29328386C>T , CM000664.2:g.29328386C>T GRCh38
NC_000002.11:g.29551252C>T , CM000664.1:g.29551252C>T GRCh37
NC_000002.10:g.29404756C>T NCBI36
NG_009445.1:g.598181G>A , LRG_488:g.598181G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389048.8:c.1378G>A MANE Select ENSP00000373700.3:p.Asp460Asn
ENST00000389048.7:c.1378G>A ENSP00000373700.3:p.Asp460Asn
ENST00000618119.4:c.247G>A ENSP00000482733.1:p.Asp83Asn
NM_004304.4:c.1378G>A NP_004295.2:p.Asp460Asn
XR_939920.1:n.694C>T
XR_939921.1:n.680+5858C>T
XR_001738688.2:n.2308G>A
XR_939920.2:n.584C>T
XR_939921.2:n.576+5858C>T
NM_004304.5:c.1378G>A MANE Select NP_004295.2:p.Asp460Asn
Search 100 bp 5'
Search 100 bp 3'