Canonical Allele Identifier: CA425619401

Gene: ALK

Linked Data

• ClinVar Variation Id: 1113306
• ClinVar RCV Id: RCV001440625 ; RCV002341968
• dbSNP Id: rs2148166518
• MyVariant Identifiers: chr2:g.29443632C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220766C>T , CM000664.2:g.29220766C>T	GRCh38
NC_000002.11:g.29443632C>T , CM000664.1:g.29443632C>T	GRCh37
NC_000002.10:g.29297136C>T	NCBI36
NG_009445.1:g.705801G>A , LRG_488:g.705801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3585G>A MANE Select	ENSP00000373700.3:p.Leu1195=
ENST00000431873.6:c.812G>A
ENST00000638605.1:n.462G>A
ENST00000642122.1:c.381G>A	ENSP00000493203.1:p.Leu127=
ENST00000389048.7:c.3585G>A	ENSP00000373700.3:p.Leu1195=
ENST00000431873.5:c.465G>A	ENSP00000414027.2:p.Leu155=
ENST00000618119.4:c.2454G>A	ENSP00000482733.1:p.Leu818=
NM_004304.4:c.3585G>A	NP_004295.2:p.Leu1195=
NM_001353765.1:c.381G>A	NP_001340694.1:p.Leu127=
XM_024452778.1:c.738G>A	XP_024308546.1:p.Leu246=
XM_024452779.1:c.381G>A	XP_024308547.1:p.Leu127=
NM_004304.5:c.3585G>A MANE Select	NP_004295.2:p.Leu1195=
NM_001353765.2:c.381G>A	NP_001340694.1:p.Leu127=