Canonical Allele Identifier: CA425433909

Linked Data

ClinVar Variation Id: 1130321
ClinVar RCV Id: RCV001463784
dbSNP Id: rs2148143395
MyVariant Identifiers: chr2:g.29420461C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197595C>T , CM000664.2:g.29197595C>T GRCh38
NC_000002.11:g.29420461C>T , CM000664.1:g.29420461C>T GRCh37
NC_000002.10:g.29273965C>T NCBI36
NG_009445.1:g.728972G>A , LRG_488:g.728972G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000689605.1:c.*589C>T (CLIP4) ENSP00000508948.1:n.*589C>T
ENST00000389048.8:c.4020G>A (ALK) MANE Select ENSP00000373700.3:p.Glu1340=
ENST00000431873.6:c.1247G>A (ALK)
ENST00000638605.1:n.897G>A (ALK)
ENST00000642122.1:c.816G>A (ALK) ENSP00000493203.1:p.Glu272=
ENST00000389048.7:c.4020G>A (ALK) ENSP00000373700.3:p.Glu1340=
ENST00000431873.5:c.900G>A (ALK) ENSP00000414027.2:p.Glu300=
ENST00000618119.4:c.2889G>A (ALK) ENSP00000482733.1:p.Glu963=
NM_004304.4:c.4020G>A (ALK) NP_004295.2:p.Glu1340=
NM_001353765.1:c.816G>A (ALK) NP_001340694.1:p.Glu272=
XM_024452778.1:c.1173G>A (ALK) XP_024308546.1:p.Glu391=
XM_024452779.1:c.816G>A (ALK) XP_024308547.1:p.Glu272=
NM_004304.5:c.4020G>A (ALK) MANE Select NP_004295.2:p.Glu1340=
NM_001353765.2:c.816G>A (ALK) NP_001340694.1:p.Glu272=