Canonical Allele Identifier: CA156620

Gene: ALK

Linked Data

• ClinVar Variation Id: 133468
• ClinVar RCV Id: RCV000119972 ; RCV000465205 ; RCV001018784
• dbSNP Id: rs370049091
• ExAC: 2:29448360 C / T
• gnomAD v2: 2-29448360-C-T
• gnomAD v3: 2-29225494-C-T
• gnomAD v4: 2-29225494-C-T
• MyVariant Identifiers: chr2:g.29448360C>T (hg19) ; chr2:g.29225494C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29225494C>T , CM000664.2:g.29225494C>T	GRCh38
NC_000002.11:g.29448360C>T , CM000664.1:g.29448360C>T	GRCh37
NC_000002.10:g.29301864C>T	NCBI36
NG_009445.1:g.701073G>A , LRG_488:g.701073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3139G>A MANE Select	ENSP00000373700.3:p.Ala1047Thr
ENST00000431873.6:c.305G>A
ENST00000389048.7:c.3139G>A	ENSP00000373700.3:p.Ala1047Thr
ENST00000618119.4:c.2008G>A	ENSP00000482733.1:p.Ala670Thr
NM_004304.4:c.3139G>A	NP_004295.2:p.Ala1047Thr
XM_024452778.1:c.292G>A	XP_024308546.1:p.Ala98Thr
XM_024452779.1:c.-1216G>A	XP_024308547.1:n.-1216G>A
XR_001738688.2:n.3995G>A
NM_004304.5:c.3139G>A MANE Select	NP_004295.2:p.Ala1047Thr