Canonical Allele Identifier: CA346462875

Gene: ALK

Linked Data

• ClinVar Variation Id: 2813107
• ClinVar RCV Id: RCV003634667
• dbSNP Id: rs1669825339
• MyVariant Identifiers: chr2:g.29445211T>G (hg19) ; chr2:g.29222345T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3514A>C MANE Select	ENSP00000373700.3:p.Ser1172Arg
ENST00000431873.6:c.741A>C
ENST00000638605.1:n.391A>C
ENST00000642122.1:c.310A>C	ENSP00000493203.1:p.Ser104Arg
ENST00000389048.7:c.3514A>C	ENSP00000373700.3:p.Ser1172Arg
ENST00000431873.5:c.394A>C	ENSP00000414027.2:p.Ser132Arg
ENST00000453137.1:c.208A>C	ENSP00000387488.1:p.Ser70Arg
ENST00000618119.4:c.2383A>C	ENSP00000482733.1:p.Ser795Arg
NM_004304.4:c.3514A>C	NP_004295.2:p.Ser1172Arg
NM_001353765.1:c.310A>C	NP_001340694.1:p.Ser104Arg
XM_024452778.1:c.667A>C	XP_024308546.1:p.Ser223Arg
XM_024452779.1:c.310A>C	XP_024308547.1:p.Ser104Arg
NM_004304.5:c.3514A>C MANE Select	NP_004295.2:p.Ser1172Arg
NM_001353765.2:c.310A>C	NP_001340694.1:p.Ser104Arg