Canonical Allele Identifier: CA346474214

Gene: ALK

Linked Data

• ClinVar Variation Id: 1364995
• ClinVar RCV Id: RCV001942551
• dbSNP Id: rs2148258267
• gnomAD v4: 2-29328393-G-C
• MyVariant Identifiers: chr2:g.29551259G>C (hg19) ; chr2:g.29328393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328393G>C , CM000664.2:g.29328393G>C	GRCh38
NC_000002.11:g.29551259G>C , CM000664.1:g.29551259G>C	GRCh37
NC_000002.10:g.29404763G>C	NCBI36
NG_009445.1:g.598174C>G , LRG_488:g.598174C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1371C>G MANE Select	ENSP00000373700.3:p.Phe457Leu
ENST00000389048.7:c.1371C>G	ENSP00000373700.3:p.Phe457Leu
ENST00000618119.4:c.240C>G	ENSP00000482733.1:p.Phe80Leu
NM_004304.4:c.1371C>G	NP_004295.2:p.Phe457Leu
XR_939920.1:n.701G>C
XR_939921.1:n.680+5865G>C
XR_001738688.2:n.2301C>G
XR_939920.2:n.591G>C
XR_939921.2:n.576+5865G>C
NM_004304.5:c.1371C>G MANE Select	NP_004295.2:p.Phe457Leu