Canonical Allele Identifier: CA346473098

Gene: ALK

Linked Data

• dbSNP Id: rs2148166577
• gnomAD v4: 2-29220787-T-A
• MyVariant Identifiers: chr2:g.29443653T>A (hg19) ; chr2:g.29220787T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220787T>A , CM000664.2:g.29220787T>A	GRCh38
NC_000002.11:g.29443653T>A , CM000664.1:g.29443653T>A	GRCh37
NC_000002.10:g.29297157T>A	NCBI36
NG_009445.1:g.705780A>T , LRG_488:g.705780A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3564A>T MANE Select	ENSP00000373700.3:p.Gln1188His
ENST00000431873.6:c.791A>T
ENST00000638605.1:n.441A>T
ENST00000642122.1:c.360A>T	ENSP00000493203.1:p.Gln120His
ENST00000389048.7:c.3564A>T	ENSP00000373700.3:p.Gln1188His
ENST00000431873.5:c.444A>T	ENSP00000414027.2:p.Gln148His
ENST00000618119.4:c.2433A>T	ENSP00000482733.1:p.Gln811His
NM_004304.4:c.3564A>T	NP_004295.2:p.Gln1188His
NM_001353765.1:c.360A>T	NP_001340694.1:p.Gln120His
XM_024452778.1:c.717A>T	XP_024308546.1:p.Gln239His
XM_024452779.1:c.360A>T	XP_024308547.1:p.Gln120His
NM_004304.5:c.3564A>T MANE Select	NP_004295.2:p.Gln1188His
NM_001353765.2:c.360A>T	NP_001340694.1:p.Gln120His