Canonical Allele Identifier: CA346473074

Gene: ALK

Linked Data

• ClinVar Variation Id: 1732850
• ClinVar RCV Id: RCV002455055 ; RCV003517378
• dbSNP Id: rs2148166531
• MyVariant Identifiers: chr2:g.29443638G>C (hg19) ; chr2:g.29220772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220772G>C , CM000664.2:g.29220772G>C	GRCh38
NC_000002.11:g.29443638G>C , CM000664.1:g.29443638G>C	GRCh37
NC_000002.10:g.29297142G>C	NCBI36
NG_009445.1:g.705795C>G , LRG_488:g.705795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3579C>G MANE Select	ENSP00000373700.3:p.Phe1193Leu
ENST00000431873.6:c.806C>G
ENST00000638605.1:n.456C>G
ENST00000642122.1:c.375C>G	ENSP00000493203.1:p.Phe125Leu
ENST00000389048.7:c.3579C>G	ENSP00000373700.3:p.Phe1193Leu
ENST00000431873.5:c.459C>G	ENSP00000414027.2:p.Phe153Leu
ENST00000618119.4:c.2448C>G	ENSP00000482733.1:p.Phe816Leu
NM_004304.4:c.3579C>G	NP_004295.2:p.Phe1193Leu
NM_001353765.1:c.375C>G	NP_001340694.1:p.Phe125Leu
XM_024452778.1:c.732C>G	XP_024308546.1:p.Phe244Leu
XM_024452779.1:c.375C>G	XP_024308547.1:p.Phe125Leu
NM_004304.5:c.3579C>G MANE Select	NP_004295.2:p.Phe1193Leu
NM_001353765.2:c.375C>G	NP_001340694.1:p.Phe125Leu