Canonical Allele Identifier: CA16602804

Gene: ALK

Linked Data

• ClinVar Variation Id: 376365
• ClinVar RCV Id: RCV000418856 ; RCV000436534
• dbSNP Id: rs113994087
• COSMIC: COSM28060
• MyVariant Identifiers: chr2:g.29432664C>A (hg19) ; chr2:g.29209798C>A (hg38)
• PubMed: PMID:26619011

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.3824G>T MANE Select	ENSP00000373700.3:p.Arg1275Leu
ENST00000431873.6:c.1051G>T
ENST00000638605.1:n.701G>T
ENST00000642122.1:c.620G>T	ENSP00000493203.1:p.Arg207Leu
ENST00000389048.7:c.3824G>T	ENSP00000373700.3:p.Arg1275Leu
ENST00000431873.5:c.704G>T	ENSP00000414027.2:p.Arg235Leu
ENST00000618119.4:c.2693G>T	ENSP00000482733.1:p.Arg898Leu
NM_004304.4:c.3824G>T	NP_004295.2:p.Arg1275Leu
NM_001353765.1:c.620G>T	NP_001340694.1:p.Arg207Leu
XM_024452778.1:c.977G>T	XP_024308546.1:p.Arg326Leu
XM_024452779.1:c.620G>T	XP_024308547.1:p.Arg207Leu
NM_004304.5:c.3824G>T MANE Select	NP_004295.2:p.Arg1275Leu
NM_001353765.2:c.620G>T	NP_001340694.1:p.Arg207Leu