Canonical Allele Identifier: CA1594707
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29383735C>T
GRCh37 chr2:g.29606601C>T
Revel Score:
ENST00000389048 (MANE Select) 0.276
gnomAD v2:
2:29606601 C / T
gnomAD v3:
2:29383735 C / T
gnomAD v4:
chr2-29383735-C-T
Joint Max Group AF 0.00002313 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002285 (NFE)
ClinVar RCV:
RCV000537783
RCV002384194
ClinVar Variation:
470744
dbSNP:
371652715
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29383735C>T , CM000664.2:g.29383735C>T GRCh38
NC_000002.11:g.29606601C>T , CM000664.1:g.29606601C>T GRCh37
NC_000002.10:g.29460105C>T NCBI36
NG_009445.1:g.542832G>A , LRG_488:g.542832G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1279G>A MANE Select ENSP00000373700.3:p.Glu427Lys
ENST00000389048.7:c.1279G>A ENSP00000373700.3:p.Glu427Lys
ENST00000618119.4:c.148G>A ENSP00000482733.1:p.Glu50Lys
NM_004304.4:c.1279G>A NP_004295.2:p.Glu427Lys
XR_001738688.2:n.2209G>A
NM_004304.5:c.1279G>A MANE Select NP_004295.2:p.Glu427Lys
Search 100 bp 5'
Search 100 bp 3'