Canonical Allele Identifier: CA1594689

Gene: ALK

Linked Data

• ClinVar Variation Id: 470745
• ClinVar RCV Id: RCV002257821 ; RCV000731880 ; RCV001088281 ; RCV001775059
• dbSNP Id: rs377214413
• ExAC: 2:29551352 A / G
• gnomAD v2: 2-29551352-A-G
• gnomAD v3: 2-29328486-A-G
• gnomAD v4: 2-29328486-A-G
• MyVariant Identifiers: chr2:g.29551352A>G (hg19) ; chr2:g.29328486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328486A>G , CM000664.2:g.29328486A>G	GRCh38
NC_000002.11:g.29551352A>G , CM000664.1:g.29551352A>G	GRCh37
NC_000002.10:g.29404856A>G	NCBI36
NG_009445.1:g.598081T>C , LRG_488:g.598081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1283-5T>C MANE Select	ENSP00000373700.3:n.1283-5T>C
ENST00000389048.7:c.1283-5T>C	ENSP00000373700.3:n.1283-5T>C
ENST00000618119.4:c.152-5T>C	ENSP00000482733.1:n.152-5T>C
NM_004304.4:c.1283-5T>C	NP_004295.2:n.1283-5T>C
XR_939920.1:n.794A>G
XR_939921.1:n.680+5958A>G
XR_001738688.2:n.2213-5T>C
XR_939920.2:n.684A>G
XR_939921.2:n.576+5958A>G
NM_004304.5:c.1283-5T>C MANE Select	NP_004295.2:n.1283-5T>C