Canonical Allele Identifier: CA1593780

Gene: ALK

Linked Data

• dbSNP Id: rs749074853
• ExAC: 2:29432695 C / T
• gnomAD v2: 2-29432695-C-T
• gnomAD v4: 2-29209829-C-T
• MyVariant Identifiers: chr2:g.29432695C>T (hg19) ; chr2:g.29209829C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29209829C>T , CM000664.2:g.29209829C>T	GRCh38
NC_000002.11:g.29432695C>T , CM000664.1:g.29432695C>T	GRCh37
NC_000002.10:g.29286199C>T	NCBI36
NG_009445.1:g.716738G>A , LRG_488:g.716738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3793G>A MANE Select	ENSP00000373700.3:p.Val1265Met
ENST00000431873.6:c.1020G>A
ENST00000638605.1:n.670G>A
ENST00000642122.1:c.589G>A	ENSP00000493203.1:p.Val197Met
ENST00000389048.7:c.3793G>A	ENSP00000373700.3:p.Val1265Met
ENST00000431873.5:c.673G>A	ENSP00000414027.2:p.Val225Met
ENST00000618119.4:c.2662G>A	ENSP00000482733.1:p.Val888Met
NM_004304.4:c.3793G>A	NP_004295.2:p.Val1265Met
NM_001353765.1:c.589G>A	NP_001340694.1:p.Val197Met
XM_024452778.1:c.946G>A	XP_024308546.1:p.Val316Met
XM_024452779.1:c.589G>A	XP_024308547.1:p.Val197Met
NM_004304.5:c.3793G>A MANE Select	NP_004295.2:p.Val1265Met
NM_001353765.2:c.589G>A	NP_001340694.1:p.Val197Met