Canonical Allele Identifier: CA346474198
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 1002636
ClinVar RCV Id: RCV001299091 RCV003153974
dbSNP Id: rs1466204048
gnomAD v4: 2-29328389-G-C
MyVariant Identifiers: chr2:g.29551255G>C (hg19) chr2:g.29328389G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29328389G>C , CM000664.2:g.29328389G>C GRCh38
NC_000002.11:g.29551255G>C , CM000664.1:g.29551255G>C GRCh37
NC_000002.10:g.29404759G>C NCBI36
NG_009445.1:g.598178C>G , LRG_488:g.598178C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389048.8:c.1375C>G MANE Select ENSP00000373700.3:p.Gln459Glu
ENST00000389048.7:c.1375C>G ENSP00000373700.3:p.Gln459Glu
ENST00000618119.4:c.244C>G ENSP00000482733.1:p.Gln82Glu
NM_004304.4:c.1375C>G NP_004295.2:p.Gln459Glu
XR_939920.1:n.697G>C
XR_939921.1:n.680+5861G>C
XR_001738688.2:n.2305C>G
XR_939920.2:n.587G>C
XR_939921.2:n.576+5861G>C
NM_004304.5:c.1375C>G MANE Select NP_004295.2:p.Gln459Glu
Search 100 bp 5'
Search 100 bp 3'