Canonical Allele Identifier: CA156662

Gene: ALK

Linked Data

• ClinVar Variation Id: 133482
• ClinVar RCV Id: RCV000119986 ; RCV000460983 ; RCV002256051 ; RCV003223611
• dbSNP Id: rs144030155
• ExAC: 2:29754835 G / C
• gnomAD v2: 2-29754835-G-C
• gnomAD v3: 2-29531969-G-C
• gnomAD v4: 2-29531969-G-C
• MyVariant Identifiers: chr2:g.29754835G>C (hg19) ; chr2:g.29531969G>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29531969G>C , CM000664.2:g.29531969G>C	GRCh38
NC_000002.11:g.29754835G>C , CM000664.1:g.29754835G>C	GRCh37
NC_000002.10:g.29608339G>C	NCBI36
NG_009445.1:g.394598C>G , LRG_488:g.394598C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1100C>G MANE Select	ENSP00000373700.3:p.Pro367Arg
ENST00000389048.7:c.1100C>G	ENSP00000373700.3:p.Pro367Arg
ENST00000618119.4:c.-32C>G	ENSP00000482733.1:n.-32C>G
NM_004304.4:c.1100C>G	NP_004295.2:p.Pro367Arg
XR_001738688.2:n.2030C>G
NM_004304.5:c.1100C>G MANE Select	NP_004295.2:p.Pro367Arg