Canonical Allele Identifier: CA1594372

Gene: ALK

Linked Data

• ClinVar Variation Id: 470785
• ClinVar RCV Id: RCV000528414 ; RCV003153718 ; RCV003225087
• dbSNP Id: rs371005946
• ExAC: 2:29462632 C / T
• gnomAD v2: 2-29462632-C-T
• gnomAD v3: 2-29239766-C-T
• gnomAD v4: 2-29239766-C-T
• COSMIC: COSM50296
• MyVariant Identifiers: chr2:g.29462632C>T (hg19) ; chr2:g.29239766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29239766C>T , CM000664.2:g.29239766C>T	GRCh38
NC_000002.11:g.29462632C>T , CM000664.1:g.29462632C>T	GRCh37
NC_000002.10:g.29316136C>T	NCBI36
NG_009445.1:g.686801G>A , LRG_488:g.686801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2269G>A MANE Select	ENSP00000373700.3:p.Val757Met
ENST00000389048.7:c.2269G>A	ENSP00000373700.3:p.Val757Met
ENST00000618119.4:c.1138G>A	ENSP00000482733.1:p.Val380Met
NM_004304.4:c.2269G>A	NP_004295.2:p.Val757Met
XR_001738688.2:n.3199G>A
NM_004304.5:c.2269G>A MANE Select	NP_004295.2:p.Val757Met