Canonical Allele Identifier: CA346473062

Gene: ALK

Linked Data

• ClinVar Variation Id: 1732929
• ClinVar RCV Id: RCV002455108
• gnomAD v4: 2-29220767-A-C
• MyVariant Identifiers: chr2:g.29443633A>C (hg19) ; chr2:g.29220767A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220767A>C , CM000664.2:g.29220767A>C	GRCh38
NC_000002.11:g.29443633A>C , CM000664.1:g.29443633A>C	GRCh37
NC_000002.10:g.29297137A>C	NCBI36
NG_009445.1:g.705800T>G , LRG_488:g.705800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3584T>G MANE Select	ENSP00000373700.3:p.Leu1195Arg
ENST00000431873.6:c.811T>G
ENST00000638605.1:n.461T>G
ENST00000642122.1:c.380T>G	ENSP00000493203.1:p.Leu127Arg
ENST00000389048.7:c.3584T>G	ENSP00000373700.3:p.Leu1195Arg
ENST00000431873.5:c.464T>G	ENSP00000414027.2:p.Leu155Arg
ENST00000618119.4:c.2453T>G	ENSP00000482733.1:p.Leu818Arg
NM_004304.4:c.3584T>G	NP_004295.2:p.Leu1195Arg
NM_001353765.1:c.380T>G	NP_001340694.1:p.Leu127Arg
XM_024452778.1:c.737T>G	XP_024308546.1:p.Leu246Arg
XM_024452779.1:c.380T>G	XP_024308547.1:p.Leu127Arg
NM_004304.5:c.3584T>G MANE Select	NP_004295.2:p.Leu1195Arg
NM_001353765.2:c.380T>G	NP_001340694.1:p.Leu127Arg