Canonical Allele Identifier: CA346473051

Gene: ALK

Linked Data

• dbSNP Id: rs754966084
• MyVariant Identifiers: chr2:g.29443626C>A (hg19) ; chr2:g.29220760C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220760C>A , CM000664.2:g.29220760C>A	GRCh38
NC_000002.11:g.29443626C>A , CM000664.1:g.29443626C>A	GRCh37
NC_000002.10:g.29297130C>A	NCBI36
NG_009445.1:g.705807G>T , LRG_488:g.705807G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3591G>T MANE Select	ENSP00000373700.3:p.Glu1197Asp
ENST00000431873.6:c.818G>T
ENST00000638605.1:n.468G>T
ENST00000642122.1:c.387G>T	ENSP00000493203.1:p.Glu129Asp
ENST00000389048.7:c.3591G>T	ENSP00000373700.3:p.Glu1197Asp
ENST00000431873.5:c.471G>T	ENSP00000414027.2:p.Glu157Asp
ENST00000618119.4:c.2460G>T	ENSP00000482733.1:p.Glu820Asp
NM_004304.4:c.3591G>T	NP_004295.2:p.Glu1197Asp
NM_001353765.1:c.387G>T	NP_001340694.1:p.Glu129Asp
XM_024452778.1:c.744G>T	XP_024308546.1:p.Glu248Asp
XM_024452779.1:c.387G>T	XP_024308547.1:p.Glu129Asp
NM_004304.5:c.3591G>T MANE Select	NP_004295.2:p.Glu1197Asp
NM_001353765.2:c.387G>T	NP_001340694.1:p.Glu129Asp