Canonical Allele Identifier: CA425619428

Gene: ALK

Linked Data

• ClinVar Variation Id: 823920
• ClinVar RCV Id: RCV001020597 ; RCV002068994
• dbSNP Id: rs777309744
• gnomAD v4: 2-29220796-C-A
• MyVariant Identifiers: chr2:g.29443662C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220796C>A , CM000664.2:g.29220796C>A	GRCh38
NC_000002.11:g.29443662C>A , CM000664.1:g.29443662C>A	GRCh37
NC_000002.10:g.29297166C>A	NCBI36
NG_009445.1:g.705771G>T , LRG_488:g.705771G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3555G>T MANE Select	ENSP00000373700.3:p.Val1185=
ENST00000431873.6:c.782G>T
ENST00000638605.1:n.432G>T
ENST00000642122.1:c.351G>T	ENSP00000493203.1:p.Val117=
ENST00000389048.7:c.3555G>T	ENSP00000373700.3:p.Val1185=
ENST00000431873.5:c.435G>T	ENSP00000414027.2:p.Val145=
ENST00000618119.4:c.2424G>T	ENSP00000482733.1:p.Val808=
NM_004304.4:c.3555G>T	NP_004295.2:p.Val1185=
NM_001353765.1:c.351G>T	NP_001340694.1:p.Val117=
XM_024452778.1:c.708G>T	XP_024308546.1:p.Val236=
XM_024452779.1:c.351G>T	XP_024308547.1:p.Val117=
NM_004304.5:c.3555G>T MANE Select	NP_004295.2:p.Val1185=
NM_001353765.2:c.351G>T	NP_001340694.1:p.Val117=