Canonical Allele Identifier: CA1595025
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29920454C>T
GRCh37 chr2:g.30143320C>T
Revel Score:
ENST00000389048 (MANE Select) 0.154
ENST00000431873 0.154
gnomAD v2:
2:30143320 C / T
gnomAD v3:
2:29920454 C / T
gnomAD v4:
chr2-29920454-C-T
Joint Max Group AF 0.00008098 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00008307 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29920454C>T , CM000664.2:g.29920454C>T GRCh38
NC_000002.11:g.30143320C>T , CM000664.1:g.30143320C>T GRCh37
NC_000002.10:g.29996824C>T NCBI36
NG_009445.1:g.6113G>A , LRG_488:g.6113G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.206G>A MANE Select ENSP00000373700.3:p.Arg69Gln
ENST00000389048.7:c.206G>A ENSP00000373700.3:p.Arg69Gln
NM_004304.4:c.206G>A NP_004295.2:p.Arg69Gln
XR_001738688.2:n.1136G>A
NM_004304.5:c.206G>A MANE Select NP_004295.2:p.Arg69Gln
Search 100 bp 5'
Search 100 bp 3'