Canonical Allele Identifier: CA346472999

Gene: ALK

Linked Data

• ClinVar Variation Id: 2068352
• ClinVar RCV Id: RCV002971102
• MyVariant Identifiers: chr2:g.29443601A>C (hg19) ; chr2:g.29220735A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220735A>C , CM000664.2:g.29220735A>C	GRCh38
NC_000002.11:g.29443601A>C , CM000664.1:g.29443601A>C	GRCh37
NC_000002.10:g.29297105A>C	NCBI36
NG_009445.1:g.705832T>G , LRG_488:g.705832T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3616T>G MANE Select	ENSP00000373700.3:p.Ser1206Ala
ENST00000431873.6:c.843T>G
ENST00000638605.1:n.493T>G
ENST00000642122.1:c.412T>G	ENSP00000493203.1:p.Ser138Ala
ENST00000389048.7:c.3616T>G	ENSP00000373700.3:p.Ser1206Ala
ENST00000431873.5:c.496T>G	ENSP00000414027.2:p.Ser166Ala
ENST00000618119.4:c.2485T>G	ENSP00000482733.1:p.Ser829Ala
NM_004304.4:c.3616T>G	NP_004295.2:p.Ser1206Ala
NM_001353765.1:c.412T>G	NP_001340694.1:p.Ser138Ala
XM_024452778.1:c.769T>G	XP_024308546.1:p.Ser257Ala
XM_024452779.1:c.412T>G	XP_024308547.1:p.Ser138Ala
NM_004304.5:c.3616T>G MANE Select	NP_004295.2:p.Ser1206Ala
NM_001353765.2:c.412T>G	NP_001340694.1:p.Ser138Ala