Canonical Allele Identifier: CA1594933

Gene: ALK

Linked Data

• ClinVar Variation Id: 538257
• ClinVar RCV Id: RCV000647466 ; RCV002255491 ; RCV003488760
• dbSNP Id: rs141093002
• ExAC: 2:30142910 C / T
• gnomAD v2: 2-30142910-C-T
• gnomAD v3: 2-29920044-C-T
• gnomAD v4: 2-29920044-C-T
• MyVariant Identifiers: chr2:g.30142910C>T (hg19) ; chr2:g.29920044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920044C>T , CM000664.2:g.29920044C>T	GRCh38
NC_000002.11:g.30142910C>T , CM000664.1:g.30142910C>T	GRCh37
NC_000002.10:g.29996414C>T	NCBI36
NG_009445.1:g.6523G>A , LRG_488:g.6523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.616G>A MANE Select	ENSP00000373700.3:p.Ala206Thr
ENST00000389048.7:c.616G>A	ENSP00000373700.3:p.Ala206Thr
NM_004304.4:c.616G>A	NP_004295.2:p.Ala206Thr
XR_001738688.2:n.1546G>A
NM_004304.5:c.616G>A MANE Select	NP_004295.2:p.Ala206Thr