Canonical Allele Identifier: CA346473057

Gene: ALK

Linked Data

• dbSNP Id: rs1295056005
• gnomAD v2: 2-29443628-C-T
• gnomAD v4: 2-29220762-C-T
• COSMIC: COSM1690370
• MyVariant Identifiers: chr2:g.29443628C>T (hg19) ; chr2:g.29220762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220762C>T , CM000664.2:g.29220762C>T	GRCh38
NC_000002.11:g.29443628C>T , CM000664.1:g.29443628C>T	GRCh37
NC_000002.10:g.29297132C>T	NCBI36
NG_009445.1:g.705805G>A , LRG_488:g.705805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3589G>A MANE Select	ENSP00000373700.3:p.Glu1197Lys
ENST00000431873.6:c.816G>A
ENST00000638605.1:n.466G>A
ENST00000642122.1:c.385G>A	ENSP00000493203.1:p.Glu129Lys
ENST00000389048.7:c.3589G>A	ENSP00000373700.3:p.Glu1197Lys
ENST00000431873.5:c.469G>A	ENSP00000414027.2:p.Glu157Lys
ENST00000618119.4:c.2458G>A	ENSP00000482733.1:p.Glu820Lys
NM_004304.4:c.3589G>A	NP_004295.2:p.Glu1197Lys
NM_001353765.1:c.385G>A	NP_001340694.1:p.Glu129Lys
XM_024452778.1:c.742G>A	XP_024308546.1:p.Glu248Lys
XM_024452779.1:c.385G>A	XP_024308547.1:p.Glu129Lys
NM_004304.5:c.3589G>A MANE Select	NP_004295.2:p.Glu1197Lys
NM_001353765.2:c.385G>A	NP_001340694.1:p.Glu129Lys