Canonical Allele Identifier: CA531766907

Gene: ALK

Linked Data

• dbSNP Id: rs76002034
• gnomAD v2: 2-29445157-G-T
• gnomAD v3: 2-29222291-G-T
• gnomAD v4: 2-29222291-G-T
• MyVariant Identifiers: chr2:g.29445157G>T (hg19) ; chr2:g.29222291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222291G>T , CM000664.2:g.29222291G>T	GRCh38
NC_000002.11:g.29445157G>T , CM000664.1:g.29445157G>T	GRCh37
NC_000002.10:g.29298661G>T	NCBI36
NG_009445.1:g.704276C>A , LRG_488:g.704276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3515+53C>A MANE Select	ENSP00000373700.3:n.3515+53C>A
ENST00000431873.6:c.742+53C>A
ENST00000638605.1:n.392+53C>A
ENST00000642122.1:c.311+53C>A	ENSP00000493203.1:n.311+53C>A
ENST00000389048.7:c.3515+53C>A	ENSP00000373700.3:n.3515+53C>A
ENST00000431873.5:c.395+53C>A	ENSP00000414027.2:n.395+53C>A
ENST00000453137.1:c.209+53C>A	ENSP00000387488.1:n.209+53C>A
ENST00000618119.4:c.2384+53C>A	ENSP00000482733.1:n.2384+53C>A
NM_004304.4:c.3515+53C>A	NP_004295.2:n.3515+53C>A
NM_001353765.1:c.311+53C>A	NP_001340694.1:n.311+53C>A
XM_024452778.1:c.668+53C>A	XP_024308546.1:n.668+53C>A
XM_024452779.1:c.311+53C>A	XP_024308547.1:n.311+53C>A
NM_004304.5:c.3515+53C>A MANE Select	NP_004295.2:n.3515+53C>A
NM_001353765.2:c.311+53C>A	NP_001340694.1:n.311+53C>A