Canonical Allele Identifier: CA1594367

Gene: ALK

Linked Data

• ClinVar Variation Id: 470787
• ClinVar RCV Id: RCV000549077 ; RCV002448745
• dbSNP Id: rs758649392
• ExAC: 2:29462597 A / G
• gnomAD v2: 2-29462597-A-G
• gnomAD v3: 2-29239731-A-G
• gnomAD v4: 2-29239731-A-G
• MyVariant Identifiers: chr2:g.29462597A>G (hg19) ; chr2:g.29239731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29239731A>G , CM000664.2:g.29239731A>G	GRCh38
NC_000002.11:g.29462597A>G , CM000664.1:g.29462597A>G	GRCh37
NC_000002.10:g.29316101A>G	NCBI36
NG_009445.1:g.686836T>C , LRG_488:g.686836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.2304T>C MANE Select	ENSP00000373700.3:p.Asp768=
ENST00000389048.7:c.2304T>C	ENSP00000373700.3:p.Asp768=
ENST00000618119.4:c.1173T>C	ENSP00000482733.1:p.Asp391=
NM_004304.4:c.2304T>C	NP_004295.2:p.Asp768=
XR_001738688.2:n.3234T>C
NM_004304.5:c.2304T>C MANE Select	NP_004295.2:p.Asp768=