Canonical Allele Identifier: CA346467691

Gene: ALK

Linked Data

• ClinVar Variation Id: 1914561
• ClinVar RCV Id: RCV002597650 ; RCV003167463
• MyVariant Identifiers: chr2:g.29449862T>A (hg19) ; chr2:g.29226996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29226996T>A , CM000664.2:g.29226996T>A	GRCh38
NC_000002.11:g.29449862T>A , CM000664.1:g.29449862T>A	GRCh37
NC_000002.10:g.29303366T>A	NCBI36
NG_009445.1:g.699571A>T , LRG_488:g.699571A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2993A>T MANE Select	ENSP00000373700.3:p.Asp998Val
ENST00000431873.6:c.159A>T
ENST00000389048.7:c.2993A>T	ENSP00000373700.3:p.Asp998Val
ENST00000618119.4:c.1862A>T	ENSP00000482733.1:p.Asp621Val
NM_004304.4:c.2993A>T	NP_004295.2:p.Asp998Val
XM_024452778.1:c.146A>T	XP_024308546.1:p.Asp49Val
XR_001738688.2:n.3849A>T
NM_004304.5:c.2993A>T MANE Select	NP_004295.2:p.Asp998Val