Canonical Allele Identifier: CA345003

Gene: ALK

Linked Data

• ClinVar Variation Id: 65671
• ClinVar RCV Id: RCV000055895 ; RCV000426209
• dbSNP Id: rs281864720
• COSMIC: COSM28499
• MyVariant Identifiers: chr2:g.29436860A>C (hg19) ; chr2:g.29213994A>C (hg38)
• CIViC: CA345003
• PubMed: PMID:20301782 ; PMID:21838707 ; PMID:21972109 ; PMID:22072639

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29213994A>C , CM000664.2:g.29213994A>C	GRCh38
NC_000002.11:g.29436860A>C , CM000664.1:g.29436860A>C	GRCh37
NC_000002.10:g.29290364A>C	NCBI36
NG_009445.1:g.712573T>G , LRG_488:g.712573T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3733T>G MANE Select	ENSP00000373700.3:p.Phe1245Val
ENST00000431873.6:c.960T>G
ENST00000638605.1:n.610T>G
ENST00000642122.1:c.529T>G	ENSP00000493203.1:p.Phe177Val
ENST00000389048.7:c.3733T>G	ENSP00000373700.3:p.Phe1245Val
ENST00000431873.5:c.613T>G	ENSP00000414027.2:p.Phe205Val
ENST00000618119.4:c.2602T>G	ENSP00000482733.1:p.Phe868Val
NM_004304.4:c.3733T>G	NP_004295.2:p.Phe1245Val
NM_001353765.1:c.529T>G	NP_001340694.1:p.Phe177Val
XM_024452778.1:c.886T>G	XP_024308546.1:p.Phe296Val
XM_024452779.1:c.529T>G	XP_024308547.1:p.Phe177Val
NM_004304.5:c.3733T>G MANE Select	NP_004295.2:p.Phe1245Val
NM_001353765.2:c.529T>G	NP_001340694.1:p.Phe177Val