Canonical Allele Identifier: CA1594568

Gene: ALK

Linked Data

• ClinVar Variation Id: 412915
• ClinVar RCV Id: RCV000467087 ; RCV002256282 ; RCV003153651
• dbSNP Id: rs769821764
• ExAC: 2:29519923 G / A
• gnomAD v2: 2-29519923-G-A
• gnomAD v3: 2-29297057-G-A
• gnomAD v4: 2-29297057-G-A
• MyVariant Identifiers: chr2:g.29519923G>A (hg19) ; chr2:g.29297057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29297057G>A , CM000664.2:g.29297057G>A	GRCh38
NC_000002.11:g.29519923G>A , CM000664.1:g.29519923G>A	GRCh37
NC_000002.10:g.29373427G>A	NCBI36
NG_009445.1:g.629510C>T , LRG_488:g.629510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1648C>T MANE Select	ENSP00000373700.3:p.Leu550Phe
ENST00000389048.7:c.1648C>T	ENSP00000373700.3:p.Leu550Phe
ENST00000498037.1:n.203C>T
ENST00000618119.4:c.517C>T	ENSP00000482733.1:p.Leu173Phe
NM_004304.4:c.1648C>T	NP_004295.2:p.Leu550Phe
XR_001738688.2:n.2578C>T
NM_004304.5:c.1648C>T MANE Select	NP_004295.2:p.Leu550Phe