Canonical Allele Identifier: CA346463026

Gene: ALK

Linked Data

• ClinVar Variation Id: 2566611
• ClinVar RCV Id: RCV003293727
• dbSNP Id: rs2148168615
• MyVariant Identifiers: chr2:g.29445232G>A (hg19) ; chr2:g.29222366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222366G>A , CM000664.2:g.29222366G>A	GRCh38
NC_000002.11:g.29445232G>A , CM000664.1:g.29445232G>A	GRCh37
NC_000002.10:g.29298736G>A	NCBI36
NG_009445.1:g.704201C>T , LRG_488:g.704201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3493C>T MANE Select	ENSP00000373700.3:p.Leu1165Phe
ENST00000431873.6:c.720C>T
ENST00000638605.1:n.370C>T
ENST00000642122.1:c.289C>T	ENSP00000493203.1:p.Leu97Phe
ENST00000389048.7:c.3493C>T	ENSP00000373700.3:p.Leu1165Phe
ENST00000431873.5:c.373C>T	ENSP00000414027.2:p.Leu125Phe
ENST00000453137.1:c.187C>T	ENSP00000387488.1:p.Leu63Phe
ENST00000618119.4:c.2362C>T	ENSP00000482733.1:p.Leu788Phe
NM_004304.4:c.3493C>T	NP_004295.2:p.Leu1165Phe
NM_001353765.1:c.289C>T	NP_001340694.1:p.Leu97Phe
XM_024452778.1:c.646C>T	XP_024308546.1:p.Leu216Phe
XM_024452779.1:c.289C>T	XP_024308547.1:p.Leu97Phe
NM_004304.5:c.3493C>T MANE Select	NP_004295.2:p.Leu1165Phe
NM_001353765.2:c.289C>T	NP_001340694.1:p.Leu97Phe