Canonical Allele Identifier: CA1594986

Gene: ALK

Linked Data

• ClinVar Variation Id: 335714
• ClinVar RCV Id: RCV000647443 ; RCV003401357 ; RCV004021814
• dbSNP Id: rs760041708
• ExAC: 2:30143140 C / A
• gnomAD v2: 2-30143140-C-A
• gnomAD v3: 2-29920274-C-A
• gnomAD v4: 2-29920274-C-A
• MyVariant Identifiers: chr2:g.30143140C>A (hg19) ; chr2:g.29920274C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920274C>A , CM000664.2:g.29920274C>A	GRCh38
NC_000002.11:g.30143140C>A , CM000664.1:g.30143140C>A	GRCh37
NC_000002.10:g.29996644C>A	NCBI36
NG_009445.1:g.6293G>T , LRG_488:g.6293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.386G>T MANE Select	ENSP00000373700.3:p.Gly129Val
ENST00000389048.7:c.386G>T	ENSP00000373700.3:p.Gly129Val
NM_004304.4:c.386G>T	NP_004295.2:p.Gly129Val
XR_001738688.2:n.1316G>T
NM_004304.5:c.386G>T MANE Select	NP_004295.2:p.Gly129Val