Canonical Allele Identifier: CA1593862

Gene: ALK

Linked Data

• ClinVar Variation Id: 823924
• ClinVar RCV Id: RCV001020604 ; RCV001238733
• dbSNP Id: rs755576991
• ExAC: 2:29443660 C / T
• gnomAD v2: 2-29443660-C-T
• gnomAD v4: 2-29220794-C-T
• MyVariant Identifiers: chr2:g.29443660C>T (hg19) ; chr2:g.29220794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220794C>T , CM000664.2:g.29220794C>T	GRCh38
NC_000002.11:g.29443660C>T , CM000664.1:g.29443660C>T	GRCh37
NC_000002.10:g.29297164C>T	NCBI36
NG_009445.1:g.705773G>A , LRG_488:g.705773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3557G>A MANE Select	ENSP00000373700.3:p.Ser1186Asn
ENST00000431873.6:c.784G>A
ENST00000638605.1:n.434G>A
ENST00000642122.1:c.353G>A	ENSP00000493203.1:p.Ser118Asn
ENST00000389048.7:c.3557G>A	ENSP00000373700.3:p.Ser1186Asn
ENST00000431873.5:c.437G>A	ENSP00000414027.2:p.Ser146Asn
ENST00000618119.4:c.2426G>A	ENSP00000482733.1:p.Ser809Asn
NM_004304.4:c.3557G>A	NP_004295.2:p.Ser1186Asn
NM_001353765.1:c.353G>A	NP_001340694.1:p.Ser118Asn
XM_024452778.1:c.710G>A	XP_024308546.1:p.Ser237Asn
XM_024452779.1:c.353G>A	XP_024308547.1:p.Ser118Asn
NM_004304.5:c.3557G>A MANE Select	NP_004295.2:p.Ser1186Asn
NM_001353765.2:c.353G>A	NP_001340694.1:p.Ser118Asn