Canonical Allele Identifier: CA346473077

Gene: ALK

Linked Data

• ClinVar Variation Id: 2772170
• ClinVar RCV Id: RCV003517843
• dbSNP Id: rs2148166532
• MyVariant Identifiers: chr2:g.29443639A>G (hg19) ; chr2:g.29220773A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3578T>C MANE Select	ENSP00000373700.3:p.Phe1193Ser
ENST00000431873.6:c.805T>C
ENST00000638605.1:n.455T>C
ENST00000642122.1:c.374T>C	ENSP00000493203.1:p.Phe125Ser
ENST00000389048.7:c.3578T>C	ENSP00000373700.3:p.Phe1193Ser
ENST00000431873.5:c.458T>C	ENSP00000414027.2:p.Phe153Ser
ENST00000618119.4:c.2447T>C	ENSP00000482733.1:p.Phe816Ser
NM_004304.4:c.3578T>C	NP_004295.2:p.Phe1193Ser
NM_001353765.1:c.374T>C	NP_001340694.1:p.Phe125Ser
XM_024452778.1:c.731T>C	XP_024308546.1:p.Phe244Ser
XM_024452779.1:c.374T>C	XP_024308547.1:p.Phe125Ser
NM_004304.5:c.3578T>C MANE Select	NP_004295.2:p.Phe1193Ser
NM_001353765.2:c.374T>C	NP_001340694.1:p.Phe125Ser