Canonical Allele Identifier: CA1594690
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 2155295
ClinVar RCV Id: RCV003072267
dbSNP Id: rs768150530
ExAC: 2:29551362 G / T
gnomAD v2: 2-29551362-G-T
gnomAD v4: 2-29328496-G-T
MyVariant Identifiers: chr2:g.29551362G>T (hg19) chr2:g.29328496G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29328496G>T , CM000664.2:g.29328496G>T GRCh38
NC_000002.11:g.29551362G>T , CM000664.1:g.29551362G>T GRCh37
NC_000002.10:g.29404866G>T NCBI36
NG_009445.1:g.598071C>A , LRG_488:g.598071C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389048.8:c.1283-15C>A MANE Select ENSP00000373700.3:n.1283-15C>A
ENST00000389048.7:c.1283-15C>A ENSP00000373700.3:n.1283-15C>A
ENST00000618119.4:c.152-15C>A ENSP00000482733.1:n.152-15C>A
NM_004304.4:c.1283-15C>A NP_004295.2:n.1283-15C>A
XR_939920.1:n.804G>T
XR_939921.1:n.680+5968G>T
XR_001738688.2:n.2213-15C>A
XR_939920.2:n.694G>T
XR_939921.2:n.576+5968G>T
NM_004304.5:c.1283-15C>A MANE Select NP_004295.2:n.1283-15C>A
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