Canonical Allele Identifier: CA279597

Gene: ALK

Linked Data

• ClinVar Variation Id: 217856
• ClinVar RCV Id: RCV000201887 ; RCV000444691
• dbSNP Id: rs863225283
• COSMIC: COSM28500
• MyVariant Identifiers: chr2:g.29436859A>C (hg19) ; chr2:g.29213993A>C (hg38)
• CIViC: CA279597
• PubMed: PMID:21838707 ; PMID:22072639

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29213993A>C , CM000664.2:g.29213993A>C	GRCh38
NC_000002.11:g.29436859A>C , CM000664.1:g.29436859A>C	GRCh37
NC_000002.10:g.29290363A>C	NCBI36
NG_009445.1:g.712574T>G , LRG_488:g.712574T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3734T>G MANE Select	ENSP00000373700.3:p.Phe1245Cys
ENST00000431873.6:c.961T>G
ENST00000638605.1:n.611T>G
ENST00000642122.1:c.530T>G	ENSP00000493203.1:p.Phe177Cys
ENST00000389048.7:c.3734T>G	ENSP00000373700.3:p.Phe1245Cys
ENST00000431873.5:c.614T>G	ENSP00000414027.2:p.Phe205Cys
ENST00000618119.4:c.2603T>G	ENSP00000482733.1:p.Phe868Cys
NM_004304.4:c.3734T>G	NP_004295.2:p.Phe1245Cys
NM_001353765.1:c.530T>G	NP_001340694.1:p.Phe177Cys
XM_024452778.1:c.887T>G	XP_024308546.1:p.Phe296Cys
XM_024452779.1:c.530T>G	XP_024308547.1:p.Phe177Cys
NM_004304.5:c.3734T>G MANE Select	NP_004295.2:p.Phe1245Cys
NM_001353765.2:c.530T>G	NP_001340694.1:p.Phe177Cys