Canonical Allele Identifier: CA346473157

Gene: ALK

Linked Data

• dbSNP Id: rs1198494888
• gnomAD v2: 2-29443682-T-C
• gnomAD v4: 2-29220816-T-C
• MyVariant Identifiers: chr2:g.29443682T>C (hg19) ; chr2:g.29220816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220816T>C , CM000664.2:g.29220816T>C	GRCh38
NC_000002.11:g.29443682T>C , CM000664.1:g.29443682T>C	GRCh37
NC_000002.10:g.29297186T>C	NCBI36
NG_009445.1:g.705751A>G , LRG_488:g.705751A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3535A>G MANE Select	ENSP00000373700.3:p.Ile1179Val
ENST00000431873.6:c.762A>G
ENST00000638605.1:n.412A>G
ENST00000642122.1:c.331A>G	ENSP00000493203.1:p.Ile111Val
ENST00000389048.7:c.3535A>G	ENSP00000373700.3:p.Ile1179Val
ENST00000431873.5:c.415A>G	ENSP00000414027.2:p.Ile139Val
ENST00000618119.4:c.2404A>G	ENSP00000482733.1:p.Ile802Val
NM_004304.4:c.3535A>G	NP_004295.2:p.Ile1179Val
NM_001353765.1:c.331A>G	NP_001340694.1:p.Ile111Val
XM_024452778.1:c.688A>G	XP_024308546.1:p.Ile230Val
XM_024452779.1:c.331A>G	XP_024308547.1:p.Ile111Val
NM_004304.5:c.3535A>G MANE Select	NP_004295.2:p.Ile1179Val
NM_001353765.2:c.331A>G	NP_001340694.1:p.Ile111Val