Canonical Allele Identifier: CA346468113

Gene: ALK

Linked Data

• dbSNP Id: rs1472378906
• gnomAD v4: 2-29227065-C-T
• MyVariant Identifiers: chr2:g.29449931C>T (hg19) ; chr2:g.29227065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29227065C>T , CM000664.2:g.29227065C>T	GRCh38
NC_000002.11:g.29449931C>T , CM000664.1:g.29449931C>T	GRCh37
NC_000002.10:g.29303435C>T	NCBI36
NG_009445.1:g.699502G>A , LRG_488:g.699502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2924G>A MANE Select	ENSP00000373700.3:p.Gly975Asp
ENST00000431873.6:c.90G>A
ENST00000389048.7:c.2924G>A	ENSP00000373700.3:p.Gly975Asp
ENST00000618119.4:c.1793G>A	ENSP00000482733.1:p.Gly598Asp
NM_004304.4:c.2924G>A	NP_004295.2:p.Gly975Asp
XM_024452778.1:c.77G>A	XP_024308546.1:p.Gly26Asp
XR_001738688.2:n.3780G>A
NM_004304.5:c.2924G>A MANE Select	NP_004295.2:p.Gly975Asp