Canonical Allele Identifier: CA11005479

Gene: ALK

Linked Data

• ClinVar Variation Id: 1239302
• ClinVar RCV Id: RCV001636210
• dbSNP Id: rs4549035
• gnomAD v2: 2-29551493-G-C
• gnomAD v3: 2-29328627-G-C
• gnomAD v4: 2-29328627-G-C
• MyVariant Identifiers: chr2:g.29551493G>C (hg19) ; chr2:g.29328627G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328627G>C , CM000664.2:g.29328627G>C	GRCh38
NC_000002.11:g.29551493G>C , CM000664.1:g.29551493G>C	GRCh37
NC_000002.10:g.29404997G>C	NCBI36
NG_009445.1:g.597940C>G , LRG_488:g.597940C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1283-146C>G MANE Select	ENSP00000373700.3:n.1283-146C>G
ENST00000389048.7:c.1283-146C>G	ENSP00000373700.3:n.1283-146C>G
ENST00000618119.4:c.152-146C>G	ENSP00000482733.1:n.152-146C>G
NM_004304.4:c.1283-146C>G	NP_004295.2:n.1283-146C>G
XR_939920.1:n.817+118G>C
XR_939921.1:n.680+6099G>C
XR_001738688.2:n.2213-146C>G
XR_939920.2:n.707+118G>C
XR_939921.2:n.576+6099G>C
NM_004304.5:c.1283-146C>G MANE Select	NP_004295.2:n.1283-146C>G