Canonical Allele Identifier: CA346469648

Gene: ALK

Linked Data

• ClinVar Variation Id: 1489753
• ClinVar RCV Id: RCV001983421
• dbSNP Id: rs1669415629
• gnomAD v4: 2-29209820-T-A
• MyVariant Identifiers: chr2:g.29432686T>A (hg19) ; chr2:g.29209820T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29209820T>A , CM000664.2:g.29209820T>A	GRCh38
NC_000002.11:g.29432686T>A , CM000664.1:g.29432686T>A	GRCh37
NC_000002.10:g.29286190T>A	NCBI36
NG_009445.1:g.716747A>T , LRG_488:g.716747A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3802A>T MANE Select	ENSP00000373700.3:p.Ile1268Phe
ENST00000431873.6:c.1029A>T
ENST00000638605.1:n.679A>T
ENST00000642122.1:c.598A>T	ENSP00000493203.1:p.Ile200Phe
ENST00000389048.7:c.3802A>T	ENSP00000373700.3:p.Ile1268Phe
ENST00000431873.5:c.682A>T	ENSP00000414027.2:p.Ile228Phe
ENST00000618119.4:c.2671A>T	ENSP00000482733.1:p.Ile891Phe
NM_004304.4:c.3802A>T	NP_004295.2:p.Ile1268Phe
NM_001353765.1:c.598A>T	NP_001340694.1:p.Ile200Phe
XM_024452778.1:c.955A>T	XP_024308546.1:p.Ile319Phe
XM_024452779.1:c.598A>T	XP_024308547.1:p.Ile200Phe
NM_004304.5:c.3802A>T MANE Select	NP_004295.2:p.Ile1268Phe
NM_001353765.2:c.598A>T	NP_001340694.1:p.Ile200Phe