Canonical Allele Identifier: CA346473029

Gene: ALK

Linked Data

• dbSNP Id: rs1187025942
• gnomAD v2: 2-29443615-C-A
• gnomAD v4: 2-29220749-C-A
• MyVariant Identifiers: chr2:g.29443615C>A (hg19) ; chr2:g.29220749C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220749C>A , CM000664.2:g.29220749C>A	GRCh38
NC_000002.11:g.29443615C>A , CM000664.1:g.29443615C>A	GRCh37
NC_000002.10:g.29297119C>A	NCBI36
NG_009445.1:g.705818G>T , LRG_488:g.705818G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3602G>T MANE Select	ENSP00000373700.3:p.Gly1201Val
ENST00000431873.6:c.829G>T
ENST00000638605.1:n.479G>T
ENST00000642122.1:c.398G>T	ENSP00000493203.1:p.Gly133Val
ENST00000389048.7:c.3602G>T	ENSP00000373700.3:p.Gly1201Val
ENST00000431873.5:c.482G>T	ENSP00000414027.2:p.Gly161Val
ENST00000618119.4:c.2471G>T	ENSP00000482733.1:p.Gly824Val
NM_004304.4:c.3602G>T	NP_004295.2:p.Gly1201Val
NM_001353765.1:c.398G>T	NP_001340694.1:p.Gly133Val
XM_024452778.1:c.755G>T	XP_024308546.1:p.Gly252Val
XM_024452779.1:c.398G>T	XP_024308547.1:p.Gly133Val
NM_004304.5:c.3602G>T MANE Select	NP_004295.2:p.Gly1201Val
NM_001353765.2:c.398G>T	NP_001340694.1:p.Gly133Val