Canonical Allele Identifier: CA346462870

Gene: ALK

Linked Data

• ClinVar Variation Id: 965082
• ClinVar RCV Id: RCV001239442
• dbSNP Id: rs1669825339
• gnomAD v4: 2-29222345-T-A
• MyVariant Identifiers: chr2:g.29445211T>A (hg19) ; chr2:g.29222345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222345T>A , CM000664.2:g.29222345T>A	GRCh38
NC_000002.11:g.29445211T>A , CM000664.1:g.29445211T>A	GRCh37
NC_000002.10:g.29298715T>A	NCBI36
NG_009445.1:g.704222A>T , LRG_488:g.704222A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3514A>T MANE Select	ENSP00000373700.3:p.Ser1172Cys
ENST00000431873.6:c.741A>T
ENST00000638605.1:n.391A>T
ENST00000642122.1:c.310A>T	ENSP00000493203.1:p.Ser104Cys
ENST00000389048.7:c.3514A>T	ENSP00000373700.3:p.Ser1172Cys
ENST00000431873.5:c.394A>T	ENSP00000414027.2:p.Ser132Cys
ENST00000453137.1:c.208A>T	ENSP00000387488.1:p.Ser70Cys
ENST00000618119.4:c.2383A>T	ENSP00000482733.1:p.Ser795Cys
NM_004304.4:c.3514A>T	NP_004295.2:p.Ser1172Cys
NM_001353765.1:c.310A>T	NP_001340694.1:p.Ser104Cys
XM_024452778.1:c.667A>T	XP_024308546.1:p.Ser223Cys
XM_024452779.1:c.310A>T	XP_024308547.1:p.Ser104Cys
NM_004304.5:c.3514A>T MANE Select	NP_004295.2:p.Ser1172Cys
NM_001353765.2:c.310A>T	NP_001340694.1:p.Ser104Cys