Canonical Allele Identifier: CA425433912

Linked Data

ClinVar Variation Id: 793690
ClinVar RCV Id: RCV001412704
dbSNP Id: rs1573084654
gnomAD v4: 2-29197598-C-T
MyVariant Identifiers: chr2:g.29420464C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29197598C>T , CM000664.2:g.29197598C>T GRCh38
NC_000002.11:g.29420464C>T , CM000664.1:g.29420464C>T GRCh37
NC_000002.10:g.29273968C>T NCBI36
NG_009445.1:g.728969G>A , LRG_488:g.728969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000689605.1:c.*592C>T (CLIP4) ENSP00000508948.1:n.*592C>T
ENST00000389048.8:c.4017G>A (ALK) MANE Select ENSP00000373700.3:p.Leu1339=
ENST00000431873.6:c.1244G>A (ALK)
ENST00000638605.1:n.894G>A (ALK)
ENST00000642122.1:c.813G>A (ALK) ENSP00000493203.1:p.Leu271=
ENST00000389048.7:c.4017G>A (ALK) ENSP00000373700.3:p.Leu1339=
ENST00000431873.5:c.897G>A (ALK) ENSP00000414027.2:p.Leu299=
ENST00000618119.4:c.2886G>A (ALK) ENSP00000482733.1:p.Leu962=
NM_004304.4:c.4017G>A (ALK) NP_004295.2:p.Leu1339=
NM_001353765.1:c.813G>A (ALK) NP_001340694.1:p.Leu271=
XM_024452778.1:c.1170G>A (ALK) XP_024308546.1:p.Leu390=
XM_024452779.1:c.813G>A (ALK) XP_024308547.1:p.Leu271=
NM_004304.5:c.4017G>A (ALK) MANE Select NP_004295.2:p.Leu1339=
NM_001353765.2:c.813G>A (ALK) NP_001340694.1:p.Leu271=