Canonical Allele Identifier: CA346473031

Gene: ALK

Linked Data

• ClinVar Variation Id: 2586704
• ClinVar RCV Id: RCV003341778 ; RCV003777476
• MyVariant Identifiers: chr2:g.29443616C>T (hg19) ; chr2:g.29220750C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220750C>T , CM000664.2:g.29220750C>T	GRCh38
NC_000002.11:g.29443616C>T , CM000664.1:g.29443616C>T	GRCh37
NC_000002.10:g.29297120C>T	NCBI36
NG_009445.1:g.705817G>A , LRG_488:g.705817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3601G>A MANE Select	ENSP00000373700.3:p.Gly1201Arg
ENST00000431873.6:c.828G>A
ENST00000638605.1:n.478G>A
ENST00000642122.1:c.397G>A	ENSP00000493203.1:p.Gly133Arg
ENST00000389048.7:c.3601G>A	ENSP00000373700.3:p.Gly1201Arg
ENST00000431873.5:c.481G>A	ENSP00000414027.2:p.Gly161Arg
ENST00000618119.4:c.2470G>A	ENSP00000482733.1:p.Gly824Arg
NM_004304.4:c.3601G>A	NP_004295.2:p.Gly1201Arg
NM_001353765.1:c.397G>A	NP_001340694.1:p.Gly133Arg
XM_024452778.1:c.754G>A	XP_024308546.1:p.Gly252Arg
XM_024452779.1:c.397G>A	XP_024308547.1:p.Gly133Arg
NM_004304.5:c.3601G>A MANE Select	NP_004295.2:p.Gly1201Arg
NM_001353765.2:c.397G>A	NP_001340694.1:p.Gly133Arg