Canonical Allele Identifier: CA1594424

Gene: ALK

Linked Data

• ClinVar Variation Id: 239802
• ClinVar RCV Id: RCV000226263 ; RCV000507604 ; RCV002256160 ; RCV002305468 ; RCV003955342
• dbSNP Id: rs147858673
• ExAC: 2:29474026 C / T
• gnomAD v2: 2-29474026-C-T
• gnomAD v3: 2-29251160-C-T
• gnomAD v4: 2-29251160-C-T
• MyVariant Identifiers: chr2:g.29474026C>T (hg19) ; chr2:g.29251160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29251160C>T , CM000664.2:g.29251160C>T	GRCh38
NC_000002.11:g.29474026C>T , CM000664.1:g.29474026C>T	GRCh37
NC_000002.10:g.29327530C>T	NCBI36
NG_009445.1:g.675407G>A , LRG_488:g.675407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2149G>A MANE Select	ENSP00000373700.3:p.Glu717Lys
ENST00000389048.7:c.2149G>A	ENSP00000373700.3:p.Glu717Lys
ENST00000618119.4:c.1018G>A	ENSP00000482733.1:p.Glu340Lys
NM_004304.4:c.2149G>A	NP_004295.2:p.Glu717Lys
XR_001738688.2:n.3079G>A
NM_004304.5:c.2149G>A MANE Select	NP_004295.2:p.Glu717Lys