Canonical Allele Identifier: CA1594870
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29717583C>T
GRCh37 chr2:g.29940449C>T
Revel Score:
ENST00000389048 (MANE Select) 0.142
ENST00000431873 0.142
gnomAD v2:
2:29940449 C / T
gnomAD v3:
2:29717583 C / T
gnomAD v4:
chr2-29717583-C-T
Joint Max Group AF 0.00012742 (AMR)
Genomes Max Group AF 0.00045205 (AMR)
Exomes Max Group AF 0.00012472 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29717583C>T , CM000664.2:g.29717583C>T GRCh38
NC_000002.11:g.29940449C>T , CM000664.1:g.29940449C>T GRCh37
NC_000002.10:g.29793953C>T NCBI36
NG_009445.1:g.208984G>A , LRG_488:g.208984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.782G>A MANE Select ENSP00000373700.3:p.Arg261Gln
ENST00000389048.7:c.782G>A ENSP00000373700.3:p.Arg261Gln
ENST00000618119.4:c.-350G>A ENSP00000482733.1:n.-350G>A
NM_004304.4:c.782G>A NP_004295.2:p.Arg261Gln
XR_001738688.2:n.1712G>A
NM_004304.5:c.782G>A MANE Select NP_004295.2:p.Arg261Gln
Search 100 bp 5'
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