Canonical Allele Identifier: CA1595007

Gene: ALK

Linked Data

• ClinVar Variation Id: 335716
• ClinVar RCV Id: RCV000530879 ; RCV002323541
• dbSNP Id: rs576431612
• ExAC: 2:30143216 G / T
• gnomAD v2: 2-30143216-G-T
• gnomAD v3: 2-29920350-G-T
• gnomAD v4: 2-29920350-G-T
• MyVariant Identifiers: chr2:g.30143216G>T (hg19) ; chr2:g.29920350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920350G>T , CM000664.2:g.29920350G>T	GRCh38
NC_000002.11:g.30143216G>T , CM000664.1:g.30143216G>T	GRCh37
NC_000002.10:g.29996720G>T	NCBI36
NG_009445.1:g.6217C>A , LRG_488:g.6217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.310C>A MANE Select	ENSP00000373700.3:p.Pro104Thr
ENST00000389048.7:c.310C>A	ENSP00000373700.3:p.Pro104Thr
NM_004304.4:c.310C>A	NP_004295.2:p.Pro104Thr
XR_001738688.2:n.1240C>A
NM_004304.5:c.310C>A MANE Select	NP_004295.2:p.Pro104Thr