Canonical Allele Identifier: CA346473019

Gene: ALK

Linked Data

• ClinVar Variation Id: 1713795
• ClinVar RCV Id: RCV002295580
• dbSNP Id: rs2148166413
• MyVariant Identifiers: chr2:g.29443609T>G (hg19) ; chr2:g.29220743T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220743T>G , CM000664.2:g.29220743T>G	GRCh38
NC_000002.11:g.29443609T>G , CM000664.1:g.29443609T>G	GRCh37
NC_000002.10:g.29297113T>G	NCBI36
NG_009445.1:g.705824A>C , LRG_488:g.705824A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3608A>C MANE Select	ENSP00000373700.3:p.Asp1203Ala
ENST00000431873.6:c.835A>C
ENST00000638605.1:n.485A>C
ENST00000642122.1:c.404A>C	ENSP00000493203.1:p.Asp135Ala
ENST00000389048.7:c.3608A>C	ENSP00000373700.3:p.Asp1203Ala
ENST00000431873.5:c.488A>C	ENSP00000414027.2:p.Asp163Ala
ENST00000618119.4:c.2477A>C	ENSP00000482733.1:p.Asp826Ala
NM_004304.4:c.3608A>C	NP_004295.2:p.Asp1203Ala
NM_001353765.1:c.404A>C	NP_001340694.1:p.Asp135Ala
XM_024452778.1:c.761A>C	XP_024308546.1:p.Asp254Ala
XM_024452779.1:c.404A>C	XP_024308547.1:p.Asp135Ala
NM_004304.5:c.3608A>C MANE Select	NP_004295.2:p.Asp1203Ala
NM_001353765.2:c.404A>C	NP_001340694.1:p.Asp135Ala