Canonical Allele Identifier: CA531490109

Gene: ALK

Linked Data

• dbSNP Id: rs1299172468
• gnomAD v2: 2-29551360-C-G
• gnomAD v4: 2-29328494-C-G
• MyVariant Identifiers: chr2:g.29551360C>G (hg19) ; chr2:g.29328494C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328494C>G , CM000664.2:g.29328494C>G	GRCh38
NC_000002.11:g.29551360C>G , CM000664.1:g.29551360C>G	GRCh37
NC_000002.10:g.29404864C>G	NCBI36
NG_009445.1:g.598073G>C , LRG_488:g.598073G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1283-13G>C MANE Select	ENSP00000373700.3:n.1283-13G>C
ENST00000389048.7:c.1283-13G>C	ENSP00000373700.3:n.1283-13G>C
ENST00000618119.4:c.152-13G>C	ENSP00000482733.1:n.152-13G>C
NM_004304.4:c.1283-13G>C	NP_004295.2:n.1283-13G>C
XR_939920.1:n.802C>G
XR_939921.1:n.680+5966C>G
XR_001738688.2:n.2213-13G>C
XR_939920.2:n.692C>G
XR_939921.2:n.576+5966C>G
NM_004304.5:c.1283-13G>C MANE Select	NP_004295.2:n.1283-13G>C