Canonical Allele Identifier: CA1594770

Gene: ALK

Linked Data

• ClinVar Variation Id: 239792
• ClinVar RCV Id: RCV000230394 ; RCV002411042
• dbSNP Id: rs773367495
• ExAC: 2:29754868 T / C
• gnomAD v2: 2-29754868-T-C
• gnomAD v3: 2-29532002-T-C
• gnomAD v4: 2-29532002-T-C
• MyVariant Identifiers: chr2:g.29754868T>C (hg19) ; chr2:g.29532002T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29532002T>C , CM000664.2:g.29532002T>C	GRCh38
NC_000002.11:g.29754868T>C , CM000664.1:g.29754868T>C	GRCh37
NC_000002.10:g.29608372T>C	NCBI36
NG_009445.1:g.394565A>G , LRG_488:g.394565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1067A>G MANE Select	ENSP00000373700.3:p.Gln356Arg
ENST00000389048.7:c.1067A>G	ENSP00000373700.3:p.Gln356Arg
ENST00000618119.4:c.-65A>G	ENSP00000482733.1:n.-65A>G
NM_004304.4:c.1067A>G	NP_004295.2:p.Gln356Arg
XR_001738688.2:n.1997A>G
NM_004304.5:c.1067A>G MANE Select	NP_004295.2:p.Gln356Arg