Canonical Allele Identifier: CA1593847

Gene: ALK

Linked Data

• ClinVar Variation Id: 1513564
• ClinVar RCV Id: RCV002282682 ; RCV002026227 ; RCV002458995
• dbSNP Id: rs759845895
• ExAC: 2:29443610 C / T
• gnomAD v2: 2-29443610-C-T
• gnomAD v3: 2-29220744-C-T
• gnomAD v4: 2-29220744-C-T
• COSMIC: COSM6191344
• MyVariant Identifiers: chr2:g.29443610C>T (hg19) ; chr2:g.29220744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220744C>T , CM000664.2:g.29220744C>T	GRCh38
NC_000002.11:g.29443610C>T , CM000664.1:g.29443610C>T	GRCh37
NC_000002.10:g.29297114C>T	NCBI36
NG_009445.1:g.705823G>A , LRG_488:g.705823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3607G>A MANE Select	ENSP00000373700.3:p.Asp1203Asn
ENST00000431873.6:c.834G>A
ENST00000638605.1:n.484G>A
ENST00000642122.1:c.403G>A	ENSP00000493203.1:p.Asp135Asn
ENST00000389048.7:c.3607G>A	ENSP00000373700.3:p.Asp1203Asn
ENST00000431873.5:c.487G>A	ENSP00000414027.2:p.Asp163Asn
ENST00000618119.4:c.2476G>A	ENSP00000482733.1:p.Asp826Asn
NM_004304.4:c.3607G>A	NP_004295.2:p.Asp1203Asn
NM_001353765.1:c.403G>A	NP_001340694.1:p.Asp135Asn
XM_024452778.1:c.760G>A	XP_024308546.1:p.Asp254Asn
XM_024452779.1:c.403G>A	XP_024308547.1:p.Asp135Asn
NM_004304.5:c.3607G>A MANE Select	NP_004295.2:p.Asp1203Asn
NM_001353765.2:c.403G>A	NP_001340694.1:p.Asp135Asn