Canonical Allele Identifier: CA1594960
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29920188G>T
GRCh37 chr2:g.30143054G>T
Revel Score:
ENST00000389048 (MANE Select) 0.150
ENST00000431873 0.150
gnomAD v2:
2:30143054 G / T
gnomAD v3:
2:29920188 G / T
gnomAD v4:
chr2-29920188-G-T
Joint Max Group AF 0.00044286 (EAS)
Genomes Max Group AF 0.00006852 (EAS)
Exomes Max Group AF 0.00045844 (EAS)
ClinVar RCV:
RCV000231787
ClinVar Variation:
239843
dbSNP:
536284304
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29920188G>T , CM000664.2:g.29920188G>T GRCh38
NC_000002.11:g.30143054G>T , CM000664.1:g.30143054G>T GRCh37
NC_000002.10:g.29996558G>T NCBI36
NG_009445.1:g.6379C>A , LRG_488:g.6379C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.472C>A MANE Select ENSP00000373700.3:p.Pro158Thr
ENST00000389048.7:c.472C>A ENSP00000373700.3:p.Pro158Thr
NM_004304.4:c.472C>A NP_004295.2:p.Pro158Thr
XR_001738688.2:n.1402C>A
NM_004304.5:c.472C>A MANE Select NP_004295.2:p.Pro158Thr
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