Canonical Allele Identifier: CA1593961

Gene: ALK

Linked Data

• ClinVar Variation Id: 2734400
• ClinVar RCV Id: RCV003518743
• dbSNP Id: rs773241951
• ExAC: 2:29445419 C / T
• gnomAD v2: 2-29445419-C-T
• gnomAD v4: 2-29222553-C-T
• MyVariant Identifiers: chr2:g.29445419C>T (hg19) ; chr2:g.29222553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222553C>T , CM000664.2:g.29222553C>T	GRCh38
NC_000002.11:g.29445419C>T , CM000664.1:g.29445419C>T	GRCh37
NC_000002.10:g.29298923C>T	NCBI36
NG_009445.1:g.704014G>A , LRG_488:g.704014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3414G>A MANE Select	ENSP00000373700.3:p.Met1138Ile
ENST00000431873.6:c.641G>A
ENST00000638605.1:n.291G>A
ENST00000642122.1:c.210G>A	ENSP00000493203.1:p.Met70Ile
ENST00000389048.7:c.3414G>A	ENSP00000373700.3:p.Met1138Ile
ENST00000431873.5:c.294G>A	ENSP00000414027.2:p.Met98Ile
ENST00000453137.1:c.108G>A	ENSP00000387488.1:p.Met36Ile
ENST00000618119.4:c.2283G>A	ENSP00000482733.1:p.Met761Ile
NM_004304.4:c.3414G>A	NP_004295.2:p.Met1138Ile
NM_001353765.1:c.210G>A	NP_001340694.1:p.Met70Ile
XM_024452778.1:c.567G>A	XP_024308546.1:p.Met189Ile
XM_024452779.1:c.210G>A	XP_024308547.1:p.Met70Ile
NM_004304.5:c.3414G>A MANE Select	NP_004295.2:p.Met1138Ile
NM_001353765.2:c.210G>A	NP_001340694.1:p.Met70Ile