Canonical Allele Identifier: CA531490110

Gene: ALK

Linked Data

• dbSNP Id: rs1438217429
• gnomAD v2: 2-29551380-G-A
• gnomAD v3: 2-29328514-G-A
• gnomAD v4: 2-29328514-G-A
• MyVariant Identifiers: chr2:g.29551380G>A (hg19) ; chr2:g.29328514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328514G>A , CM000664.2:g.29328514G>A	GRCh38
NC_000002.11:g.29551380G>A , CM000664.1:g.29551380G>A	GRCh37
NC_000002.10:g.29404884G>A	NCBI36
NG_009445.1:g.598053C>T , LRG_488:g.598053C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1283-33C>T MANE Select	ENSP00000373700.3:n.1283-33C>T
ENST00000389048.7:c.1283-33C>T	ENSP00000373700.3:n.1283-33C>T
ENST00000618119.4:c.152-33C>T	ENSP00000482733.1:n.152-33C>T
NM_004304.4:c.1283-33C>T	NP_004295.2:n.1283-33C>T
XR_939920.1:n.817+5G>A
XR_939921.1:n.680+5986G>A
XR_001738688.2:n.2213-33C>T
XR_939920.2:n.707+5G>A
XR_939921.2:n.576+5986G>A
NM_004304.5:c.1283-33C>T MANE Select	NP_004295.2:n.1283-33C>T