Canonical Allele Identifier: CA1594812

Gene: ALK

Linked Data

• ClinVar Variation Id: 335709
• ClinVar RCV Id: RCV000551970 ; RCV002255145
• dbSNP Id: rs367712624
• ExAC: 2:29917738 C / A
• gnomAD v2: 2-29917738-C-A
• gnomAD v3: 2-29694872-C-A
• gnomAD v4: 2-29694872-C-A
• MyVariant Identifiers: chr2:g.29917738C>A (hg19) ; chr2:g.29694872C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29694872C>A , CM000664.2:g.29694872C>A	GRCh38
NC_000002.11:g.29917738C>A , CM000664.1:g.29917738C>A	GRCh37
NC_000002.10:g.29771242C>A	NCBI36
NG_009445.1:g.231695G>T , LRG_488:g.231695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.930G>T MANE Select	ENSP00000373700.3:p.Glu310Asp
ENST00000389048.7:c.930G>T	ENSP00000373700.3:p.Glu310Asp
ENST00000618119.4:c.-202G>T	ENSP00000482733.1:n.-202G>T
NM_004304.4:c.930G>T	NP_004295.2:p.Glu310Asp
XR_001738688.2:n.1860G>T
NM_004304.5:c.930G>T MANE Select	NP_004295.2:p.Glu310Asp