Canonical Allele Identifier: CA425434571
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 1731878
ClinVar RCV Id: RCV002457398
dbSNP Id: rs1669826314
MyVariant Identifiers: chr2:g.29445239C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29222373C>G , CM000664.2:g.29222373C>G GRCh38
NC_000002.11:g.29445239C>G , CM000664.1:g.29445239C>G GRCh37
NC_000002.10:g.29298743C>G NCBI36
NG_009445.1:g.704194G>C , LRG_488:g.704194G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3486G>C MANE Select ENSP00000373700.3:p.Leu1162=
ENST00000431873.6:c.713G>C
ENST00000638605.1:n.363G>C
ENST00000642122.1:c.282G>C ENSP00000493203.1:p.Leu94=
ENST00000389048.7:c.3486G>C ENSP00000373700.3:p.Leu1162=
ENST00000431873.5:c.366G>C ENSP00000414027.2:p.Leu122=
ENST00000453137.1:c.180G>C ENSP00000387488.1:p.Leu60=
ENST00000618119.4:c.2355G>C ENSP00000482733.1:p.Leu785=
NM_004304.4:c.3486G>C NP_004295.2:p.Leu1162=
NM_001353765.1:c.282G>C NP_001340694.1:p.Leu94=
XM_024452778.1:c.639G>C XP_024308546.1:p.Leu213=
XM_024452779.1:c.282G>C XP_024308547.1:p.Leu94=
NM_004304.5:c.3486G>C MANE Select NP_004295.2:p.Leu1162=
NM_001353765.2:c.282G>C NP_001340694.1:p.Leu94=