Canonical Allele Identifier: CA1594950

Gene: ALK

Linked Data

• ClinVar Variation Id: 335713
• ClinVar RCV Id: RCV000275905 ; RCV004021813
• dbSNP Id: rs780271684
• ExAC: 2:30143019 A / G
• gnomAD v2: 2-30143019-A-G
• gnomAD v4: 2-29920153-A-G
• MyVariant Identifiers: chr2:g.30143019A>G (hg19) ; chr2:g.29920153A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920153A>G , CM000664.2:g.29920153A>G	GRCh38
NC_000002.11:g.30143019A>G , CM000664.1:g.30143019A>G	GRCh37
NC_000002.10:g.29996523A>G	NCBI36
NG_009445.1:g.6414T>C , LRG_488:g.6414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.507T>C MANE Select	ENSP00000373700.3:p.Asn169=
ENST00000389048.7:c.507T>C	ENSP00000373700.3:p.Asn169=
NM_004304.4:c.507T>C	NP_004295.2:p.Asn169=
XR_001738688.2:n.1437T>C
NM_004304.5:c.507T>C MANE Select	NP_004295.2:p.Asn169=