Canonical Allele Identifier: CA425434554
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 3223864
ClinVar RCV Id: RCV004516628
dbSNP Id: rs760322018
MyVariant Identifiers: chr2:g.29445212G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29222346G>A , CM000664.2:g.29222346G>A GRCh38
NC_000002.11:g.29445212G>A , CM000664.1:g.29445212G>A GRCh37
NC_000002.10:g.29298716G>A NCBI36
NG_009445.1:g.704221C>T , LRG_488:g.704221C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3513C>T MANE Select ENSP00000373700.3:p.Ile1171=
ENST00000431873.6:c.740C>T
ENST00000638605.1:n.390C>T
ENST00000642122.1:c.309C>T ENSP00000493203.1:p.Ile103=
ENST00000389048.7:c.3513C>T ENSP00000373700.3:p.Ile1171=
ENST00000431873.5:c.393C>T ENSP00000414027.2:p.Ile131=
ENST00000453137.1:c.207C>T ENSP00000387488.1:p.Ile69=
ENST00000618119.4:c.2382C>T ENSP00000482733.1:p.Ile794=
NM_004304.4:c.3513C>T NP_004295.2:p.Ile1171=
NM_001353765.1:c.309C>T NP_001340694.1:p.Ile103=
XM_024452778.1:c.666C>T XP_024308546.1:p.Ile222=
XM_024452779.1:c.309C>T XP_024308547.1:p.Ile103=
NM_004304.5:c.3513C>T MANE Select NP_004295.2:p.Ile1171=
NM_001353765.2:c.309C>T NP_001340694.1:p.Ile103=