Canonical Allele Identifier: CA1594680
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 1037762
ClinVar RCV Id: RCV001340966
dbSNP Id: rs199970780
ExAC: 2:29551279 G / C
gnomAD v2: 2-29551279-G-C
gnomAD v3: 2-29328413-G-C
gnomAD v4: 2-29328413-G-C
MyVariant Identifiers: chr2:g.29551279G>C (hg19) chr2:g.29328413G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29328413G>C , CM000664.2:g.29328413G>C GRCh38
NC_000002.11:g.29551279G>C , CM000664.1:g.29551279G>C GRCh37
NC_000002.10:g.29404783G>C NCBI36
NG_009445.1:g.598154C>G , LRG_488:g.598154C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1351C>G MANE Select ENSP00000373700.3:p.Leu451Val
ENST00000389048.7:c.1351C>G ENSP00000373700.3:p.Leu451Val
ENST00000618119.4:c.220C>G ENSP00000482733.1:p.Leu74Val
NM_004304.4:c.1351C>G NP_004295.2:p.Leu451Val
XR_939920.1:n.721G>C
XR_939921.1:n.680+5885G>C
XR_001738688.2:n.2281C>G
XR_939920.2:n.611G>C
XR_939921.2:n.576+5885G>C
NM_004304.5:c.1351C>G MANE Select NP_004295.2:p.Leu451Val
Search 100 bp 5'
Search 100 bp 3'