Canonical Allele Identifier: CA346468095

Gene: ALK

Linked Data

• ClinVar Variation Id: 2119820
• ClinVar RCV Id: RCV003033285
• MyVariant Identifiers: chr2:g.29449927G>T (hg19) ; chr2:g.29227061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29227061G>T , CM000664.2:g.29227061G>T	GRCh38
NC_000002.11:g.29449927G>T , CM000664.1:g.29449927G>T	GRCh37
NC_000002.10:g.29303431G>T	NCBI36
NG_009445.1:g.699506C>A , LRG_488:g.699506C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2928C>A MANE Select	ENSP00000373700.3:p.His976Gln
ENST00000431873.6:c.94C>A
ENST00000389048.7:c.2928C>A	ENSP00000373700.3:p.His976Gln
ENST00000618119.4:c.1797C>A	ENSP00000482733.1:p.His599Gln
NM_004304.4:c.2928C>A	NP_004295.2:p.His976Gln
XM_024452778.1:c.81C>A	XP_024308546.1:p.His27Gln
XR_001738688.2:n.3784C>A
NM_004304.5:c.2928C>A MANE Select	NP_004295.2:p.His976Gln