Canonical Allele Identifier: CA346468137

Gene: ALK

Linked Data

• ClinVar Variation Id: 1474208
• ClinVar RCV Id: RCV001971093
• dbSNP Id: rs2148178726
• MyVariant Identifiers: chr2:g.29449936C>T (hg19) ; chr2:g.29227070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29227070C>T , CM000664.2:g.29227070C>T	GRCh38
NC_000002.11:g.29449936C>T , CM000664.1:g.29449936C>T	GRCh37
NC_000002.10:g.29303440C>T	NCBI36
NG_009445.1:g.699497G>A , LRG_488:g.699497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2919G>A MANE Select	ENSP00000373700.3:p.Met973Ile
ENST00000431873.6:c.85G>A
ENST00000389048.7:c.2919G>A	ENSP00000373700.3:p.Met973Ile
ENST00000618119.4:c.1788G>A	ENSP00000482733.1:p.Met596Ile
NM_004304.4:c.2919G>A	NP_004295.2:p.Met973Ile
XM_024452778.1:c.72G>A	XP_024308546.1:p.Met24Ile
XR_001738688.2:n.3775G>A
NM_004304.5:c.2919G>A MANE Select	NP_004295.2:p.Met973Ile