Canonical Allele Identifier: CA346473172

Gene: ALK

Linked Data

• ClinVar Variation Id: 2701401
• ClinVar RCV Id: RCV003517972
• dbSNP Id: rs2148166694
• MyVariant Identifiers: chr2:g.29443688G>C (hg19) ; chr2:g.29220822G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220822G>C , CM000664.2:g.29220822G>C	GRCh38
NC_000002.11:g.29443688G>C , CM000664.1:g.29443688G>C	GRCh37
NC_000002.10:g.29297192G>C	NCBI36
NG_009445.1:g.705745C>G , LRG_488:g.705745C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3529C>G MANE Select	ENSP00000373700.3:p.Gln1177Glu
ENST00000431873.6:c.756C>G
ENST00000638605.1:n.406C>G
ENST00000642122.1:c.325C>G	ENSP00000493203.1:p.Gln109Glu
ENST00000389048.7:c.3529C>G	ENSP00000373700.3:p.Gln1177Glu
ENST00000431873.5:c.409C>G	ENSP00000414027.2:p.Gln137Glu
ENST00000618119.4:c.2398C>G	ENSP00000482733.1:p.Gln800Glu
NM_004304.4:c.3529C>G	NP_004295.2:p.Gln1177Glu
NM_001353765.1:c.325C>G	NP_001340694.1:p.Gln109Glu
XM_024452778.1:c.682C>G	XP_024308546.1:p.Gln228Glu
XM_024452779.1:c.325C>G	XP_024308547.1:p.Gln109Glu
NM_004304.5:c.3529C>G MANE Select	NP_004295.2:p.Gln1177Glu
NM_001353765.2:c.325C>G	NP_001340694.1:p.Gln109Glu