Canonical Allele Identifier: CA346473138

Gene: ALK

Linked Data

• ClinVar Variation Id: 2816650
• ClinVar RCV Id: RCV003634718
• dbSNP Id: rs2148166628
• MyVariant Identifiers: chr2:g.29443672C>T (hg19) ; chr2:g.29220806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220806C>T , CM000664.2:g.29220806C>T	GRCh38
NC_000002.11:g.29443672C>T , CM000664.1:g.29443672C>T	GRCh37
NC_000002.10:g.29297176C>T	NCBI36
NG_009445.1:g.705761G>A , LRG_488:g.705761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3545G>A MANE Select	ENSP00000373700.3:p.Cys1182Tyr
ENST00000431873.6:c.772G>A
ENST00000638605.1:n.422G>A
ENST00000642122.1:c.341G>A	ENSP00000493203.1:p.Cys114Tyr
ENST00000389048.7:c.3545G>A	ENSP00000373700.3:p.Cys1182Tyr
ENST00000431873.5:c.425G>A	ENSP00000414027.2:p.Cys142Tyr
ENST00000618119.4:c.2414G>A	ENSP00000482733.1:p.Cys805Tyr
NM_004304.4:c.3545G>A	NP_004295.2:p.Cys1182Tyr
NM_001353765.1:c.341G>A	NP_001340694.1:p.Cys114Tyr
XM_024452778.1:c.698G>A	XP_024308546.1:p.Cys233Tyr
XM_024452779.1:c.341G>A	XP_024308547.1:p.Cys114Tyr
NM_004304.5:c.3545G>A MANE Select	NP_004295.2:p.Cys1182Tyr
NM_001353765.2:c.341G>A	NP_001340694.1:p.Cys114Tyr