Canonical Allele Identifier: CA1594727

Gene: ALK

Linked Data

• ClinVar Variation Id: 470739
• ClinVar RCV Id: RCV000542876 ; RCV002255453
• dbSNP Id: rs779282861
• ExAC: 2:29606697 G / A
• gnomAD v2: 2-29606697-G-A
• gnomAD v3: 2-29383831-G-A
• gnomAD v4: 2-29383831-G-A
• MyVariant Identifiers: chr2:g.29606697G>A (hg19) ; chr2:g.29383831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29383831G>A , CM000664.2:g.29383831G>A	GRCh38
NC_000002.11:g.29606697G>A , CM000664.1:g.29606697G>A	GRCh37
NC_000002.10:g.29460201G>A	NCBI36
NG_009445.1:g.542736C>T , LRG_488:g.542736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1183C>T MANE Select	ENSP00000373700.3:p.Arg395Cys
ENST00000389048.7:c.1183C>T	ENSP00000373700.3:p.Arg395Cys
ENST00000618119.4:c.52C>T	ENSP00000482733.1:p.Arg18Cys
NM_004304.4:c.1183C>T	NP_004295.2:p.Arg395Cys
XR_001738688.2:n.2113C>T
NM_004304.5:c.1183C>T MANE Select	NP_004295.2:p.Arg395Cys