Canonical Allele Identifier: CA1594692

Gene: ALK

Linked Data

• dbSNP Id: rs571545181
• ExAC: 2:29551368 C / A
• gnomAD v2: 2-29551368-C-A
• gnomAD v3: 2-29328502-C-A
• gnomAD v4: 2-29328502-C-A
• MyVariant Identifiers: chr2:g.29551368C>A (hg19) ; chr2:g.29328502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328502C>A , CM000664.2:g.29328502C>A	GRCh38
NC_000002.11:g.29551368C>A , CM000664.1:g.29551368C>A	GRCh37
NC_000002.10:g.29404872C>A	NCBI36
NG_009445.1:g.598065G>T , LRG_488:g.598065G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1283-21G>T MANE Select	ENSP00000373700.3:n.1283-21G>T
ENST00000389048.7:c.1283-21G>T	ENSP00000373700.3:n.1283-21G>T
ENST00000618119.4:c.152-21G>T	ENSP00000482733.1:n.152-21G>T
NM_004304.4:c.1283-21G>T	NP_004295.2:n.1283-21G>T
XR_939920.1:n.810C>A
XR_939921.1:n.680+5974C>A
XR_001738688.2:n.2213-21G>T
XR_939920.2:n.700C>A
XR_939921.2:n.576+5974C>A
NM_004304.5:c.1283-21G>T MANE Select	NP_004295.2:n.1283-21G>T