Canonical Allele Identifier: CA44665083

Gene: ALK

Linked Data

• dbSNP Id: rs994815321
• gnomAD v3: 2-29328884-G-A
• gnomAD v4: 2-29328884-G-A
• MyVariant Identifiers: chr2:g.29551750G>A (hg19) ; chr2:g.29328884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29328884G>A , CM000664.2:g.29328884G>A	GRCh38
NC_000002.11:g.29551750G>A , CM000664.1:g.29551750G>A	GRCh37
NC_000002.10:g.29405254G>A	NCBI36
NG_009445.1:g.597683C>T , LRG_488:g.597683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1283-403C>T MANE Select	ENSP00000373700.3:n.1283-403C>T
ENST00000389048.7:c.1283-403C>T	ENSP00000373700.3:n.1283-403C>T
ENST00000618119.4:c.152-403C>T	ENSP00000482733.1:n.152-403C>T
NM_004304.4:c.1283-403C>T	NP_004295.2:n.1283-403C>T
XR_939920.1:n.818-41G>A
XR_939921.1:n.680+6356G>A
XR_001738688.2:n.2213-403C>T
XR_939920.2:n.708-41G>A
XR_939921.2:n.576+6356G>A
NM_004304.5:c.1283-403C>T MANE Select	NP_004295.2:n.1283-403C>T