Canonical Allele Identifier: CA341482

Gene: ALK

Linked Data

• ClinVar Variation Id: 18083
• ClinVar RCV Id: RCV000423720 ; RCV000432041 ; RCV000440978 ; RCV001268655 ; RCV002354167 ; RCV000019709
• dbSNP Id: rs113994087
• COSMIC: COSM28056
• MyVariant Identifiers: chr2:g.29432664C>T (hg19) ; chr2:g.29209798C>T (hg38)
• CIViC: CA341482
• PubMed: PMID:18724359 ; PMID:18923523 ; PMID:18923524 ; PMID:18923525 ; PMID:20301782 ; PMID:21242967 ; PMID:21838707 ; PMID:22071890 ; PMID:22072639 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29209798C>T , CM000664.2:g.29209798C>T	GRCh38
NC_000002.11:g.29432664C>T , CM000664.1:g.29432664C>T	GRCh37
NC_000002.10:g.29286168C>T	NCBI36
NG_009445.1:g.716769G>A , LRG_488:g.716769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3824G>A MANE Select	ENSP00000373700.3:p.Arg1275Gln
ENST00000431873.6:c.1051G>A
ENST00000638605.1:n.701G>A
ENST00000642122.1:c.620G>A	ENSP00000493203.1:p.Arg207Gln
ENST00000389048.7:c.3824G>A	ENSP00000373700.3:p.Arg1275Gln
ENST00000431873.5:c.704G>A	ENSP00000414027.2:p.Arg235Gln
ENST00000618119.4:c.2693G>A	ENSP00000482733.1:p.Arg898Gln
NM_004304.4:c.3824G>A	NP_004295.2:p.Arg1275Gln
NM_001353765.1:c.620G>A	NP_001340694.1:p.Arg207Gln
XM_024452778.1:c.977G>A	XP_024308546.1:p.Arg326Gln
XM_024452779.1:c.620G>A	XP_024308547.1:p.Arg207Gln
NM_004304.5:c.3824G>A MANE Select	NP_004295.2:p.Arg1275Gln
NM_001353765.2:c.620G>A	NP_001340694.1:p.Arg207Gln