Canonical Allele Identifier: CA346473151

Gene: ALK

Linked Data

• ClinVar Variation Id: 2056207
• ClinVar RCV Id: RCV002947440
• dbSNP Id: rs2148166660
• MyVariant Identifiers: chr2:g.29443679C>T (hg19) ; chr2:g.29220813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220813C>T , CM000664.2:g.29220813C>T	GRCh38
NC_000002.11:g.29443679C>T , CM000664.1:g.29443679C>T	GRCh37
NC_000002.10:g.29297183C>T	NCBI36
NG_009445.1:g.705754G>A , LRG_488:g.705754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3538G>A MANE Select	ENSP00000373700.3:p.Val1180Ile
ENST00000431873.6:c.765G>A
ENST00000638605.1:n.415G>A
ENST00000642122.1:c.334G>A	ENSP00000493203.1:p.Val112Ile
ENST00000389048.7:c.3538G>A	ENSP00000373700.3:p.Val1180Ile
ENST00000431873.5:c.418G>A	ENSP00000414027.2:p.Val140Ile
ENST00000618119.4:c.2407G>A	ENSP00000482733.1:p.Val803Ile
NM_004304.4:c.3538G>A	NP_004295.2:p.Val1180Ile
NM_001353765.1:c.334G>A	NP_001340694.1:p.Val112Ile
XM_024452778.1:c.691G>A	XP_024308546.1:p.Val231Ile
XM_024452779.1:c.334G>A	XP_024308547.1:p.Val112Ile
NM_004304.5:c.3538G>A MANE Select	NP_004295.2:p.Val1180Ile
NM_001353765.2:c.334G>A	NP_001340694.1:p.Val112Ile