Canonical Allele Identifier: CA346462993

Gene: ALK

Linked Data

• ClinVar Variation Id: 3223863
• ClinVar RCV Id: RCV004516627
• dbSNP Id: rs1224108356
• gnomAD v2: 2-29445227-C-T
• gnomAD v4: 2-29222361-C-T
• MyVariant Identifiers: chr2:g.29445227C>T (hg19) ; chr2:g.29222361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222361C>T , CM000664.2:g.29222361C>T	GRCh38
NC_000002.11:g.29445227C>T , CM000664.1:g.29445227C>T	GRCh37
NC_000002.10:g.29298731C>T	NCBI36
NG_009445.1:g.704206G>A , LRG_488:g.704206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3498G>A MANE Select	ENSP00000373700.3:p.Met1166Ile
ENST00000431873.6:c.725G>A
ENST00000638605.1:n.375G>A
ENST00000642122.1:c.294G>A	ENSP00000493203.1:p.Met98Ile
ENST00000389048.7:c.3498G>A	ENSP00000373700.3:p.Met1166Ile
ENST00000431873.5:c.378G>A	ENSP00000414027.2:p.Met126Ile
ENST00000453137.1:c.192G>A	ENSP00000387488.1:p.Met64Ile
ENST00000618119.4:c.2367G>A	ENSP00000482733.1:p.Met789Ile
NM_004304.4:c.3498G>A	NP_004295.2:p.Met1166Ile
NM_001353765.1:c.294G>A	NP_001340694.1:p.Met98Ile
XM_024452778.1:c.651G>A	XP_024308546.1:p.Met217Ile
XM_024452779.1:c.294G>A	XP_024308547.1:p.Met98Ile
NM_004304.5:c.3498G>A MANE Select	NP_004295.2:p.Met1166Ile
NM_001353765.2:c.294G>A	NP_001340694.1:p.Met98Ile