Canonical Allele Identifier: CA425433884

Linked Data

ClinVar Variation Id: 2566592
ClinVar RCV Id: RCV003293717
dbSNP Id: rs2148143244
MyVariant Identifiers: chr2:g.29420425C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197559C>T , CM000664.2:g.29197559C>T GRCh38
NC_000002.11:g.29420425C>T , CM000664.1:g.29420425C>T GRCh37
NC_000002.10:g.29273929C>T NCBI36
NG_009445.1:g.729008G>A , LRG_488:g.729008G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000689605.1:c.*553C>T (CLIP4) ENSP00000508948.1:n.*553C>T
ENST00000389048.8:c.4056G>A (ALK) MANE Select ENSP00000373700.3:p.Lys1352=
ENST00000431873.6:c.1283G>A (ALK)
ENST00000638605.1:n.933G>A (ALK)
ENST00000642122.1:c.852G>A (ALK) ENSP00000493203.1:p.Lys284=
ENST00000389048.7:c.4056G>A (ALK) ENSP00000373700.3:p.Lys1352=
ENST00000431873.5:c.936G>A (ALK) ENSP00000414027.2:p.Lys312=
ENST00000618119.4:c.2925G>A (ALK) ENSP00000482733.1:p.Lys975=
NM_004304.4:c.4056G>A (ALK) NP_004295.2:p.Lys1352=
NM_001353765.1:c.852G>A (ALK) NP_001340694.1:p.Lys284=
XM_024452778.1:c.1209G>A (ALK) XP_024308546.1:p.Lys403=
XM_024452779.1:c.852G>A (ALK) XP_024308547.1:p.Lys284=
NM_004304.5:c.4056G>A (ALK) MANE Select NP_004295.2:p.Lys1352=
NM_001353765.2:c.852G>A (ALK) NP_001340694.1:p.Lys284=