Canonical Allele Identifier: CA1594872

Gene: ALK

Linked Data

• ClinVar Variation Id: 404385
• ClinVar RCV Id: RCV000468417 ; RCV002256243 ; RCV003226926
• dbSNP Id: rs771593278
• ExAC: 2:29940456 G / A
• gnomAD v2: 2-29940456-G-A
• gnomAD v3: 2-29717590-G-A
• gnomAD v4: 2-29717590-G-A
• MyVariant Identifiers: chr2:g.29940456G>A (hg19) ; chr2:g.29717590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29717590G>A , CM000664.2:g.29717590G>A	GRCh38
NC_000002.11:g.29940456G>A , CM000664.1:g.29940456G>A	GRCh37
NC_000002.10:g.29793960G>A	NCBI36
NG_009445.1:g.208977C>T , LRG_488:g.208977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.775C>T MANE Select	ENSP00000373700.3:p.Arg259Cys
ENST00000389048.7:c.775C>T	ENSP00000373700.3:p.Arg259Cys
ENST00000618119.4:c.-357C>T	ENSP00000482733.1:n.-357C>T
NM_004304.4:c.775C>T	NP_004295.2:p.Arg259Cys
XR_001738688.2:n.1705C>T
NM_004304.5:c.775C>T MANE Select	NP_004295.2:p.Arg259Cys