Canonical Allele Identifier: CA346473044

Gene: ALK

Linked Data

• gnomAD v4: 2-29220756-T-C
• MyVariant Identifiers: chr2:g.29443622T>C (hg19) ; chr2:g.29220756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220756T>C , CM000664.2:g.29220756T>C	GRCh38
NC_000002.11:g.29443622T>C , CM000664.1:g.29443622T>C	GRCh37
NC_000002.10:g.29297126T>C	NCBI36
NG_009445.1:g.705811A>G , LRG_488:g.705811A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3595A>G MANE Select	ENSP00000373700.3:p.Met1199Val
ENST00000431873.6:c.822A>G
ENST00000638605.1:n.472A>G
ENST00000642122.1:c.391A>G	ENSP00000493203.1:p.Met131Val
ENST00000389048.7:c.3595A>G	ENSP00000373700.3:p.Met1199Val
ENST00000431873.5:c.475A>G	ENSP00000414027.2:p.Met159Val
ENST00000618119.4:c.2464A>G	ENSP00000482733.1:p.Met822Val
NM_004304.4:c.3595A>G	NP_004295.2:p.Met1199Val
NM_001353765.1:c.391A>G	NP_001340694.1:p.Met131Val
XM_024452778.1:c.748A>G	XP_024308546.1:p.Met250Val
XM_024452779.1:c.391A>G	XP_024308547.1:p.Met131Val
NM_004304.5:c.3595A>G MANE Select	NP_004295.2:p.Met1199Val
NM_001353765.2:c.391A>G	NP_001340694.1:p.Met131Val