Canonical Allele Identifier: CA1594833

Gene: ALK

Linked Data

• ClinVar Variation Id: 404374
• ClinVar RCV Id: RCV000465368 ; RCV003153577
• dbSNP Id: rs572340007
• ExAC: 2:29917796 C / T
• gnomAD v2: 2-29917796-C-T
• gnomAD v3: 2-29694930-C-T
• gnomAD v4: 2-29694930-C-T
• COSMIC: COSM1182532
• MyVariant Identifiers: chr2:g.29917796C>T (hg19) ; chr2:g.29694930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29694930C>T , CM000664.2:g.29694930C>T	GRCh38
NC_000002.11:g.29917796C>T , CM000664.1:g.29917796C>T	GRCh37
NC_000002.10:g.29771300C>T	NCBI36
NG_009445.1:g.231637G>A , LRG_488:g.231637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.872G>A MANE Select	ENSP00000373700.3:p.Arg291His
ENST00000389048.7:c.872G>A	ENSP00000373700.3:p.Arg291His
ENST00000618119.4:c.-260G>A	ENSP00000482733.1:n.-260G>A
NM_004304.4:c.872G>A	NP_004295.2:p.Arg291His
XR_001738688.2:n.1802G>A
NM_004304.5:c.872G>A MANE Select	NP_004295.2:p.Arg291His