Canonical Allele Identifier: CA1594830

Gene: ALK

Linked Data

• ClinVar Variation Id: 404322
• ClinVar RCV Id: RCV000473638 ; RCV002256241
• dbSNP Id: rs149145987
• ExAC: 2:29917793 C / T
• gnomAD v2: 2-29917793-C-T
• gnomAD v3: 2-29694927-C-T
• gnomAD v4: 2-29694927-C-T
• MyVariant Identifiers: chr2:g.29917793C>T (hg19) ; chr2:g.29694927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29694927C>T , CM000664.2:g.29694927C>T	GRCh38
NC_000002.11:g.29917793C>T , CM000664.1:g.29917793C>T	GRCh37
NC_000002.10:g.29771297C>T	NCBI36
NG_009445.1:g.231640G>A , LRG_488:g.231640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.875G>A MANE Select	ENSP00000373700.3:p.Arg292His
ENST00000389048.7:c.875G>A	ENSP00000373700.3:p.Arg292His
ENST00000618119.4:c.-257G>A	ENSP00000482733.1:n.-257G>A
NM_004304.4:c.875G>A	NP_004295.2:p.Arg292His
XR_001738688.2:n.1805G>A
NM_004304.5:c.875G>A MANE Select	NP_004295.2:p.Arg292His