Canonical Allele Identifier: CA346590852
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29920647C>T
GRCh37 chr2:g.30143513C>T
Revel Score:
ENST00000389048 (MANE Select) 0.052
ENST00000431873 0.052
gnomAD v2:
2:30143513 C / T
gnomAD v3:
2:29920647 C / T
gnomAD v4:
chr2-29920647-C-T
Joint Max Group AF 0.00003514 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0000347 (NFE)
ClinVar RCV:
RCV000534322
ClinVar Variation:
470747
dbSNP:
1272214012
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29920647C>T , CM000664.2:g.29920647C>T GRCh38
NC_000002.11:g.30143513C>T , CM000664.1:g.30143513C>T GRCh37
NC_000002.10:g.29997017C>T NCBI36
NG_009445.1:g.5920G>A , LRG_488:g.5920G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.13G>A MANE Select ENSP00000373700.3:p.Gly5Arg
ENST00000389048.7:c.13G>A ENSP00000373700.3:p.Gly5Arg
NM_004304.4:c.13G>A NP_004295.2:p.Gly5Arg
XR_001738688.2:n.943G>A
NM_004304.5:c.13G>A MANE Select NP_004295.2:p.Gly5Arg
Search 100 bp 5'
Search 100 bp 3'