Canonical Allele Identifier: CA1594982
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29920263G>A
GRCh37 chr2:g.30143129G>A
Revel Score:
ENST00000389048 (MANE Select) 0.202
ENST00000431873 0.202
gnomAD v2:
2:30143129 G / A
gnomAD v3:
2:29920263 G / A
gnomAD v4:
chr2-29920263-G-A
Joint Max Group AF 0.00010582 (AMR)
Exomes Max Group AF 0.00012755 (AMR)
ClinVar RCV:
RCV000647424
ClinVar Variation:
538219
dbSNP:
775940832
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29920263G>A , CM000664.2:g.29920263G>A GRCh38
NC_000002.11:g.30143129G>A , CM000664.1:g.30143129G>A GRCh37
NC_000002.10:g.29996633G>A NCBI36
NG_009445.1:g.6304C>T , LRG_488:g.6304C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.397C>T MANE Select ENSP00000373700.3:p.Arg133Cys
ENST00000389048.7:c.397C>T ENSP00000373700.3:p.Arg133Cys
NM_004304.4:c.397C>T NP_004295.2:p.Arg133Cys
XR_001738688.2:n.1327C>T
NM_004304.5:c.397C>T MANE Select NP_004295.2:p.Arg133Cys
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