Canonical Allele Identifier: CA346473036

Gene: ALK

Linked Data

• ClinVar Variation Id: 3223867
• ClinVar RCV Id: RCV004516631
• dbSNP Id: rs2148166467
• MyVariant Identifiers: chr2:g.29443619C>T (hg19) ; chr2:g.29220753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220753C>T , CM000664.2:g.29220753C>T	GRCh38
NC_000002.11:g.29443619C>T , CM000664.1:g.29443619C>T	GRCh37
NC_000002.10:g.29297123C>T	NCBI36
NG_009445.1:g.705814G>A , LRG_488:g.705814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3598G>A MANE Select	ENSP00000373700.3:p.Ala1200Thr
ENST00000431873.6:c.825G>A
ENST00000638605.1:n.475G>A
ENST00000642122.1:c.394G>A	ENSP00000493203.1:p.Ala132Thr
ENST00000389048.7:c.3598G>A	ENSP00000373700.3:p.Ala1200Thr
ENST00000431873.5:c.478G>A	ENSP00000414027.2:p.Ala160Thr
ENST00000618119.4:c.2467G>A	ENSP00000482733.1:p.Ala823Thr
NM_004304.4:c.3598G>A	NP_004295.2:p.Ala1200Thr
NM_001353765.1:c.394G>A	NP_001340694.1:p.Ala132Thr
XM_024452778.1:c.751G>A	XP_024308546.1:p.Ala251Thr
XM_024452779.1:c.394G>A	XP_024308547.1:p.Ala132Thr
NM_004304.5:c.3598G>A MANE Select	NP_004295.2:p.Ala1200Thr
NM_001353765.2:c.394G>A	NP_001340694.1:p.Ala132Thr