Canonical Allele Identifier: CA425619403

Gene: ALK

Linked Data

• ClinVar Variation Id: 2822734
• ClinVar RCV Id: RCV003634809
• dbSNP Id: rs2148166518
• MyVariant Identifiers: chr2:g.29443632C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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