Canonical Allele Identifier: CA1594612

Gene: ALK

Linked Data

• ClinVar Variation Id: 335707
• ClinVar RCV Id: RCV001526802 ; RCV002402059 ; RCV003148707
• dbSNP Id: rs367674546
• ExAC: 2:29541267 T / C
• gnomAD v2: 2-29541267-T-C
• gnomAD v3: 2-29318401-T-C
• gnomAD v4: 2-29318401-T-C
• MyVariant Identifiers: chr2:g.29541267T>C (hg19) ; chr2:g.29318401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29318401T>C , CM000664.2:g.29318401T>C	GRCh38
NC_000002.11:g.29541267T>C , CM000664.1:g.29541267T>C	GRCh37
NC_000002.10:g.29394771T>C	NCBI36
NG_009445.1:g.608166A>G , LRG_488:g.608166A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.1550A>G MANE Select	ENSP00000373700.3:p.His517Arg
ENST00000389048.7:c.1550A>G	ENSP00000373700.3:p.His517Arg
ENST00000498037.1:n.105A>G
ENST00000618119.4:c.419A>G	ENSP00000482733.1:p.His140Arg
NM_004304.4:c.1550A>G	NP_004295.2:p.His517Arg
XR_001738688.2:n.2480A>G
NM_004304.5:c.1550A>G MANE Select	NP_004295.2:p.His517Arg