Canonical Allele Identifier: CA346468125

Gene: ALK

Linked Data

• ClinVar Variation Id: 2566595
• ClinVar RCV Id: RCV003306628
• MyVariant Identifiers: chr2:g.29449933T>G (hg19) ; chr2:g.29227067T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29227067T>G , CM000664.2:g.29227067T>G	GRCh38
NC_000002.11:g.29449933T>G , CM000664.1:g.29449933T>G	GRCh37
NC_000002.10:g.29303437T>G	NCBI36
NG_009445.1:g.699500A>C , LRG_488:g.699500A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2922A>C MANE Select	ENSP00000373700.3:p.Glu974Asp
ENST00000431873.6:c.88A>C
ENST00000389048.7:c.2922A>C	ENSP00000373700.3:p.Glu974Asp
ENST00000618119.4:c.1791A>C	ENSP00000482733.1:p.Glu597Asp
NM_004304.4:c.2922A>C	NP_004295.2:p.Glu974Asp
XM_024452778.1:c.75A>C	XP_024308546.1:p.Glu25Asp
XR_001738688.2:n.3778A>C
NM_004304.5:c.2922A>C MANE Select	NP_004295.2:p.Glu974Asp