Canonical Allele Identifier: CA346473076

Gene: ALK

Linked Data

• dbSNP Id: rs2148166532
• MyVariant Identifiers: chr2:g.29443639A>C (hg19) ; chr2:g.29220773A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220773A>C , CM000664.2:g.29220773A>C	GRCh38
NC_000002.11:g.29443639A>C , CM000664.1:g.29443639A>C	GRCh37
NC_000002.10:g.29297143A>C	NCBI36
NG_009445.1:g.705794T>G , LRG_488:g.705794T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3578T>G MANE Select	ENSP00000373700.3:p.Phe1193Cys
ENST00000431873.6:c.805T>G
ENST00000638605.1:n.455T>G
ENST00000642122.1:c.374T>G	ENSP00000493203.1:p.Phe125Cys
ENST00000389048.7:c.3578T>G	ENSP00000373700.3:p.Phe1193Cys
ENST00000431873.5:c.458T>G	ENSP00000414027.2:p.Phe153Cys
ENST00000618119.4:c.2447T>G	ENSP00000482733.1:p.Phe816Cys
NM_004304.4:c.3578T>G	NP_004295.2:p.Phe1193Cys
NM_001353765.1:c.374T>G	NP_001340694.1:p.Phe125Cys
XM_024452778.1:c.731T>G	XP_024308546.1:p.Phe244Cys
XM_024452779.1:c.374T>G	XP_024308547.1:p.Phe125Cys
NM_004304.5:c.3578T>G MANE Select	NP_004295.2:p.Phe1193Cys
NM_001353765.2:c.374T>G	NP_001340694.1:p.Phe125Cys