Canonical Allele Identifier: CA1594263

Gene: ALK

Linked Data

• ClinVar Variation Id: 404350
• ClinVar RCV Id: RCV000464123 ; RCV002451070
• dbSNP Id: rs189078025
• ExAC: 2:29455242 C / T
• gnomAD v2: 2-29455242-C-T
• gnomAD v3: 2-29232376-C-T
• gnomAD v4: 2-29232376-C-T
• COSMIC: COSM370816
• MyVariant Identifiers: chr2:g.29455242C>T (hg19) ; chr2:g.29232376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29232376C>T , CM000664.2:g.29232376C>T	GRCh38
NC_000002.11:g.29455242C>T , CM000664.1:g.29455242C>T	GRCh37
NC_000002.10:g.29308746C>T	NCBI36
NG_009445.1:g.694191G>A , LRG_488:g.694191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2560G>A MANE Select	ENSP00000373700.3:p.Asp854Asn
ENST00000389048.7:c.2560G>A	ENSP00000373700.3:p.Asp854Asn
ENST00000618119.4:c.1429G>A	ENSP00000482733.1:p.Asp477Asn
NM_004304.4:c.2560G>A	NP_004295.2:p.Asp854Asn
XR_001738688.2:n.3490G>A
NM_004304.5:c.2560G>A MANE Select	NP_004295.2:p.Asp854Asn