Canonical Allele Identifier: CA346467638
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 1041118
ClinVar RCV Id: RCV001344871 RCV003294357
dbSNP Id: rs1452461214
gnomAD v3: 2-29226975-A-G
gnomAD v4: 2-29226975-A-G
MyVariant Identifiers: chr2:g.29449841A>G (hg19) chr2:g.29226975A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29226975A>G , CM000664.2:g.29226975A>G GRCh38
NC_000002.11:g.29449841A>G , CM000664.1:g.29449841A>G GRCh37
NC_000002.10:g.29303345A>G NCBI36
NG_009445.1:g.699592T>C , LRG_488:g.699592T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3014T>C MANE Select ENSP00000373700.3:p.Ile1005Thr
ENST00000431873.6:c.180T>C
ENST00000389048.7:c.3014T>C ENSP00000373700.3:p.Ile1005Thr
ENST00000618119.4:c.1883T>C ENSP00000482733.1:p.Ile628Thr
NM_004304.4:c.3014T>C NP_004295.2:p.Ile1005Thr
XM_024452778.1:c.167T>C XP_024308546.1:p.Ile56Thr
XR_001738688.2:n.3870T>C
NM_004304.5:c.3014T>C MANE Select NP_004295.2:p.Ile1005Thr
Search 100 bp 5'
Search 100 bp 3'