Canonical Allele Identifier: CA425436036

Gene: ALK

Linked Data

• ClinVar Variation Id: 1556487
• ClinVar RCV Id: RCV002187944
• dbSNP Id: rs2148258275
• gnomAD v4: 2-29328396-G-A
• MyVariant Identifiers: chr2:g.29551262G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328396G>A , CM000664.2:g.29328396G>A	GRCh38
NC_000002.11:g.29551262G>A , CM000664.1:g.29551262G>A	GRCh37
NC_000002.10:g.29404766G>A	NCBI36
NG_009445.1:g.598171C>T , LRG_488:g.598171C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1368C>T MANE Select	ENSP00000373700.3:p.Asp456=
ENST00000389048.7:c.1368C>T	ENSP00000373700.3:p.Asp456=
ENST00000618119.4:c.237C>T	ENSP00000482733.1:p.Asp79=
NM_004304.4:c.1368C>T	NP_004295.2:p.Asp456=
XR_939920.1:n.704G>A
XR_939921.1:n.680+5868G>A
XR_001738688.2:n.2298C>T
XR_939920.2:n.594G>A
XR_939921.2:n.576+5868G>A
NM_004304.5:c.1368C>T MANE Select	NP_004295.2:p.Asp456=