Canonical Allele Identifier: CA346474196

Gene: ALK

Linked Data

• dbSNP Id: rs1466204048
• gnomAD v4: 2-29328389-G-A
• MyVariant Identifiers: chr2:g.29551255G>A (hg19) ; chr2:g.29328389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328389G>A , CM000664.2:g.29328389G>A	GRCh38
NC_000002.11:g.29551255G>A , CM000664.1:g.29551255G>A	GRCh37
NC_000002.10:g.29404759G>A	NCBI36
NG_009445.1:g.598178C>T , LRG_488:g.598178C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1375C>T MANE Select	ENSP00000373700.3:p.Gln459Ter
ENST00000389048.7:c.1375C>T	ENSP00000373700.3:p.Gln459Ter
ENST00000618119.4:c.244C>T	ENSP00000482733.1:p.Gln82Ter
NM_004304.4:c.1375C>T	NP_004295.2:p.Gln459Ter
XR_939920.1:n.697G>A
XR_939921.1:n.680+5861G>A
XR_001738688.2:n.2305C>T
XR_939920.2:n.587G>A
XR_939921.2:n.576+5861G>A
NM_004304.5:c.1375C>T MANE Select	NP_004295.2:p.Gln459Ter