Canonical Allele Identifier: CA1593865

Gene: ALK

Linked Data

• ClinVar Variation Id: 1420262
• ClinVar RCV Id: RCV001943499 ; RCV003365564
• dbSNP Id: rs770456378
• ExAC: 2:29443670 T / C
• gnomAD v2: 2-29443670-T-C
• gnomAD v4: 2-29220804-T-C
• MyVariant Identifiers: chr2:g.29443670T>C (hg19) ; chr2:g.29220804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220804T>C , CM000664.2:g.29220804T>C	GRCh38
NC_000002.11:g.29443670T>C , CM000664.1:g.29443670T>C	GRCh37
NC_000002.10:g.29297174T>C	NCBI36
NG_009445.1:g.705763A>G , LRG_488:g.705763A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3547A>G MANE Select	ENSP00000373700.3:p.Ile1183Val
ENST00000431873.6:c.774A>G
ENST00000638605.1:n.424A>G
ENST00000642122.1:c.343A>G	ENSP00000493203.1:p.Ile115Val
ENST00000389048.7:c.3547A>G	ENSP00000373700.3:p.Ile1183Val
ENST00000431873.5:c.427A>G	ENSP00000414027.2:p.Ile143Val
ENST00000618119.4:c.2416A>G	ENSP00000482733.1:p.Ile806Val
NM_004304.4:c.3547A>G	NP_004295.2:p.Ile1183Val
NM_001353765.1:c.343A>G	NP_001340694.1:p.Ile115Val
XM_024452778.1:c.700A>G	XP_024308546.1:p.Ile234Val
XM_024452779.1:c.343A>G	XP_024308547.1:p.Ile115Val
NM_004304.5:c.3547A>G MANE Select	NP_004295.2:p.Ile1183Val
NM_001353765.2:c.343A>G	NP_001340694.1:p.Ile115Val