Canonical Allele Identifier: CA1593854

Gene: ALK

Linked Data

• ClinVar Variation Id: 239825
• ClinVar RCV Id: RCV000229337 ; RCV000573898 ; RCV002284382
• dbSNP Id: rs200585833
• ExAC: 2:29443618 G / A
• gnomAD v2: 2-29443618-G-A
• gnomAD v3: 2-29220752-G-A
• gnomAD v4: 2-29220752-G-A
• COSMIC: COSM317003
• MyVariant Identifiers: chr2:g.29443618G>A (hg19) ; chr2:g.29220752G>A (hg38)
• PubMed: PMID:25517749

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220752G>A , CM000664.2:g.29220752G>A	GRCh38
NC_000002.11:g.29443618G>A , CM000664.1:g.29443618G>A	GRCh37
NC_000002.10:g.29297122G>A	NCBI36
NG_009445.1:g.705815C>T , LRG_488:g.705815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3599C>T MANE Select	ENSP00000373700.3:p.Ala1200Val
ENST00000431873.6:c.826C>T
ENST00000638605.1:n.476C>T
ENST00000642122.1:c.395C>T	ENSP00000493203.1:p.Ala132Val
ENST00000389048.7:c.3599C>T	ENSP00000373700.3:p.Ala1200Val
ENST00000431873.5:c.479C>T	ENSP00000414027.2:p.Ala160Val
ENST00000618119.4:c.2468C>T	ENSP00000482733.1:p.Ala823Val
NM_004304.4:c.3599C>T	NP_004295.2:p.Ala1200Val
NM_001353765.1:c.395C>T	NP_001340694.1:p.Ala132Val
XM_024452778.1:c.752C>T	XP_024308546.1:p.Ala251Val
XM_024452779.1:c.395C>T	XP_024308547.1:p.Ala132Val
NM_004304.5:c.3599C>T MANE Select	NP_004295.2:p.Ala1200Val
NM_001353765.2:c.395C>T	NP_001340694.1:p.Ala132Val