Canonical Allele Identifier: CA44979597
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 470900
ClinVar RCV Id: RCV000550182 RCV003409805
dbSNP Id: rs972790555
gnomAD v2: 2-29940450-G-A
gnomAD v4: 2-29717584-G-A
MyVariant Identifiers: chr2:g.29940450G>A (hg19) chr2:g.29717584G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29717584G>A , CM000664.2:g.29717584G>A GRCh38
NC_000002.11:g.29940450G>A , CM000664.1:g.29940450G>A GRCh37
NC_000002.10:g.29793954G>A NCBI36
NG_009445.1:g.208983C>T , LRG_488:g.208983C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389048.8:c.781C>T MANE Select ENSP00000373700.3:p.Arg261Ter
ENST00000389048.7:c.781C>T ENSP00000373700.3:p.Arg261Ter
ENST00000618119.4:c.-351C>T ENSP00000482733.1:n.-351C>T
NM_004304.4:c.781C>T NP_004295.2:p.Arg261Ter
XR_001738688.2:n.1711C>T
NM_004304.5:c.781C>T MANE Select NP_004295.2:p.Arg261Ter
Search 100 bp 5'
Search 100 bp 3'