Canonical Allele Identifier: CA1594674
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 239795
ClinVar RCV Id: RCV000231007 RCV002378996 RCV003417821
dbSNP Id: rs773380015
ExAC: 2:29551254 T / C
gnomAD v2: 2-29551254-T-C
gnomAD v3: 2-29328388-T-C
gnomAD v4: 2-29328388-T-C
MyVariant Identifiers: chr2:g.29551254T>C (hg19) chr2:g.29328388T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29328388T>C , CM000664.2:g.29328388T>C GRCh38
NC_000002.11:g.29551254T>C , CM000664.1:g.29551254T>C GRCh37
NC_000002.10:g.29404758T>C NCBI36
NG_009445.1:g.598179A>G , LRG_488:g.598179A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389048.8:c.1376A>G MANE Select ENSP00000373700.3:p.Gln459Arg
ENST00000389048.7:c.1376A>G ENSP00000373700.3:p.Gln459Arg
ENST00000618119.4:c.245A>G ENSP00000482733.1:p.Gln82Arg
NM_004304.4:c.1376A>G NP_004295.2:p.Gln459Arg
XR_939920.1:n.696T>C
XR_939921.1:n.680+5860T>C
XR_001738688.2:n.2306A>G
XR_939920.2:n.586T>C
XR_939921.2:n.576+5860T>C
NM_004304.5:c.1376A>G MANE Select NP_004295.2:p.Gln459Arg
Search 100 bp 5'
Search 100 bp 3'