Canonical Allele Identifier: CA1593833

Gene: ALK

Linked Data

• ClinVar Variation Id: 1575110
• ClinVar RCV Id: RCV002083316
• dbSNP Id: rs764315663
• ExAC: 2:29443558 T / C
• gnomAD v2: 2-29443558-T-C
• gnomAD v3: 2-29220692-T-C
• gnomAD v4: 2-29220692-T-C
• MyVariant Identifiers: chr2:g.29443558T>C (hg19) ; chr2:g.29220692T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220692T>C , CM000664.2:g.29220692T>C	GRCh38
NC_000002.11:g.29443558T>C , CM000664.1:g.29443558T>C	GRCh37
NC_000002.10:g.29297062T>C	NCBI36
NG_009445.1:g.705875A>G , LRG_488:g.705875A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.3645+14A>G MANE Select	ENSP00000373700.3:n.3645+14A>G
ENST00000431873.6:c.872+14A>G
ENST00000638605.1:n.522+14A>G
ENST00000642122.1:c.441+14A>G	ENSP00000493203.1:n.441+14A>G
ENST00000389048.7:c.3645+14A>G	ENSP00000373700.3:n.3645+14A>G
ENST00000431873.5:c.525+14A>G	ENSP00000414027.2:n.525+14A>G
ENST00000618119.4:c.2514+14A>G	ENSP00000482733.1:n.2514+14A>G
NM_004304.4:c.3645+14A>G	NP_004295.2:n.3645+14A>G
NM_001353765.1:c.441+14A>G	NP_001340694.1:n.441+14A>G
XM_024452778.1:c.798+14A>G	XP_024308546.1:n.798+14A>G
XM_024452779.1:c.441+14A>G	XP_024308547.1:n.441+14A>G
NM_004304.5:c.3645+14A>G MANE Select	NP_004295.2:n.3645+14A>G
NM_001353765.2:c.441+14A>G	NP_001340694.1:n.441+14A>G