Canonical Allele Identifier: CA1594369

Gene: ALK

Linked Data

• ClinVar Variation Id: 404331
• ClinVar RCV Id: RCV000476112 ; RCV002446771
• dbSNP Id: rs751419856
• ExAC: 2:29462617 T / C
• gnomAD v2: 2-29462617-T-C
• gnomAD v4: 2-29239751-T-C
• MyVariant Identifiers: chr2:g.29462617T>C (hg19) ; chr2:g.29239751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29239751T>C , CM000664.2:g.29239751T>C	GRCh38
NC_000002.11:g.29462617T>C , CM000664.1:g.29462617T>C	GRCh37
NC_000002.10:g.29316121T>C	NCBI36
NG_009445.1:g.686816A>G , LRG_488:g.686816A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2284A>G MANE Select	ENSP00000373700.3:p.Ile762Val
ENST00000389048.7:c.2284A>G	ENSP00000373700.3:p.Ile762Val
ENST00000618119.4:c.1153A>G	ENSP00000482733.1:p.Ile385Val
NM_004304.4:c.2284A>G	NP_004295.2:p.Ile762Val
XR_001738688.2:n.3214A>G
NM_004304.5:c.2284A>G MANE Select	NP_004295.2:p.Ile762Val