Canonical Allele Identifier: CA279616

Gene: ALK

Linked Data

• ClinVar Variation Id: 217852
• ClinVar RCV Id: RCV000201904 ; RCV000442440 ; RCV000427324
• dbSNP Id: rs863225281
• COSMIC: COSM28061
• MyVariant Identifiers: chr2:g.29443695G>C (hg19) ; chr2:g.29220829G>C (hg38)
• PubMed: PMID:22277784 ; PMID:24327273 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220829G>C , CM000664.2:g.29220829G>C	GRCh38
NC_000002.11:g.29443695G>C , CM000664.1:g.29443695G>C	GRCh37
NC_000002.10:g.29297199G>C	NCBI36
NG_009445.1:g.705738C>G , LRG_488:g.705738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3522C>G MANE Select	ENSP00000373700.3:p.Phe1174Leu
ENST00000431873.6:c.749C>G
ENST00000638605.1:n.399C>G
ENST00000642122.1:c.318C>G	ENSP00000493203.1:p.Phe106Leu
ENST00000389048.7:c.3522C>G	ENSP00000373700.3:p.Phe1174Leu
ENST00000431873.5:c.402C>G	ENSP00000414027.2:p.Phe134Leu
ENST00000618119.4:c.2391C>G	ENSP00000482733.1:p.Phe797Leu
NM_004304.4:c.3522C>G	NP_004295.2:p.Phe1174Leu
NM_001353765.1:c.318C>G	NP_001340694.1:p.Phe106Leu
XM_024452778.1:c.675C>G	XP_024308546.1:p.Phe225Leu
XM_024452779.1:c.318C>G	XP_024308547.1:p.Phe106Leu
NM_004304.5:c.3522C>G MANE Select	NP_004295.2:p.Phe1174Leu
NM_001353765.2:c.318C>G	NP_001340694.1:p.Phe106Leu