Canonical Allele Identifier: CA346474242

Gene: ALK

Linked Data

• ClinVar Variation Id: 1482327
• ClinVar RCV Id: RCV002002898
• dbSNP Id: rs2148258283
• MyVariant Identifiers: chr2:g.29551264C>T (hg19) ; chr2:g.29328398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328398C>T , CM000664.2:g.29328398C>T	GRCh38
NC_000002.11:g.29551264C>T , CM000664.1:g.29551264C>T	GRCh37
NC_000002.10:g.29404768C>T	NCBI36
NG_009445.1:g.598169G>A , LRG_488:g.598169G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1366G>A MANE Select	ENSP00000373700.3:p.Asp456Asn
ENST00000389048.7:c.1366G>A	ENSP00000373700.3:p.Asp456Asn
ENST00000618119.4:c.235G>A	ENSP00000482733.1:p.Asp79Asn
NM_004304.4:c.1366G>A	NP_004295.2:p.Asp456Asn
XR_939920.1:n.706C>T
XR_939921.1:n.680+5870C>T
XR_001738688.2:n.2296G>A
XR_939920.2:n.596C>T
XR_939921.2:n.576+5870C>T
NM_004304.5:c.1366G>A MANE Select	NP_004295.2:p.Asp456Asn