Canonical Allele Identifier: CA341486

Gene: ALK

Linked Data

• ClinVar Variation Id: 18085
• ClinVar RCV Id: RCV000422453 ; RCV000427890 ; RCV000019711
• dbSNP Id: rs113994089
• MyVariant Identifiers: chr2:g.29443642C>G (hg19) ; chr2:g.29220776C>G (hg38)
• PubMed: PMID:18724359 ; PMID:18923523 ; PMID:20301782 ; PMID:22071890 ; PMID:22072639
• CIViC: CA341486

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220776C>G , CM000664.2:g.29220776C>G	GRCh38
NC_000002.11:g.29443642C>G , CM000664.1:g.29443642C>G	GRCh37
NC_000002.10:g.29297146C>G	NCBI36
NG_009445.1:g.705791G>C , LRG_488:g.705791G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3575G>C MANE Select	ENSP00000373700.3:p.Arg1192Pro
ENST00000431873.6:c.802G>C
ENST00000638605.1:n.452G>C
ENST00000642122.1:c.371G>C	ENSP00000493203.1:p.Arg124Pro
ENST00000389048.7:c.3575G>C	ENSP00000373700.3:p.Arg1192Pro
ENST00000431873.5:c.455G>C	ENSP00000414027.2:p.Arg152Pro
ENST00000618119.4:c.2444G>C	ENSP00000482733.1:p.Arg815Pro
NM_004304.4:c.3575G>C	NP_004295.2:p.Arg1192Pro
NM_001353765.1:c.371G>C	NP_001340694.1:p.Arg124Pro
XM_024452778.1:c.728G>C	XP_024308546.1:p.Arg243Pro
XM_024452779.1:c.371G>C	XP_024308547.1:p.Arg124Pro
NM_004304.5:c.3575G>C MANE Select	NP_004295.2:p.Arg1192Pro
NM_001353765.2:c.371G>C	NP_001340694.1:p.Arg124Pro