Canonical Allele Identifier: CA1594674

Gene: ALK

Linked Data

• ClinVar Variation Id: 239795
• ClinVar RCV Id: RCV000231007 ; RCV003417821 ; RCV002378996
• dbSNP Id: rs773380015
• ExAC: 2:29551254 T / C
• gnomAD v2: 2-29551254-T-C
• gnomAD v3: 2-29328388-T-C
• gnomAD v4: 2-29328388-T-C
• MyVariant Identifiers: chr2:g.29551254T>C (hg19) ; chr2:g.29328388T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328388T>C , CM000664.2:g.29328388T>C	GRCh38
NC_000002.11:g.29551254T>C , CM000664.1:g.29551254T>C	GRCh37
NC_000002.10:g.29404758T>C	NCBI36
NG_009445.1:g.598179A>G , LRG_488:g.598179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1376A>G MANE Select	ENSP00000373700.3:p.Gln459Arg
ENST00000389048.7:c.1376A>G	ENSP00000373700.3:p.Gln459Arg
ENST00000618119.4:c.245A>G	ENSP00000482733.1:p.Gln82Arg
NM_004304.4:c.1376A>G	NP_004295.2:p.Gln459Arg
XR_939920.1:n.696T>C
XR_939921.1:n.680+5860T>C
XR_001738688.2:n.2306A>G
XR_939920.2:n.586T>C
XR_939921.2:n.576+5860T>C
NM_004304.5:c.1376A>G MANE Select	NP_004295.2:p.Gln459Arg