Canonical Allele Identifier: CA1594926
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29919999C>G
GRCh37 chr2:g.30142865C>G
Revel Score:
ENST00000389048 (MANE Select) 0.066
ENST00000431873 0.066
gnomAD v2:
2:30142865 C / G
gnomAD v3:
2:29919999 C / G
gnomAD v4:
chr2-29919999-C-G
Joint Max Group AF 0.00036919 (SAS)
Genomes Max Group AF 0.00014675 (NFE)
Exomes Max Group AF 0.0003696 (SAS)
ClinVar RCV:
RCV000560898
RCV001025462
ClinVar Variation:
470893
dbSNP:
199584443
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29919999C>G , CM000664.2:g.29919999C>G GRCh38
NC_000002.11:g.30142865C>G , CM000664.1:g.30142865C>G GRCh37
NC_000002.10:g.29996369C>G NCBI36
NG_009445.1:g.6568G>C , LRG_488:g.6568G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.661G>C MANE Select ENSP00000373700.3:p.Gly221Arg
ENST00000389048.7:c.661G>C ENSP00000373700.3:p.Gly221Arg
NM_004304.4:c.661G>C NP_004295.2:p.Gly221Arg
XR_001738688.2:n.1591G>C
NM_004304.5:c.661G>C MANE Select NP_004295.2:p.Gly221Arg
Search 100 bp 5'
Search 100 bp 3'