Canonical Allele Identifier: CA14987488
Gene: ADM2 HGNC NCBI
MIOX HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50484788T>C
GRCh37 chr22:g.50923217T>C
gnomAD v2:
22:50923217 T / C
gnomAD v3:
22:50484788 T / C
gnomAD v4:
chr22-50484788-T-C
Joint Max Group AF 0.89021798 (EAS)
Genomes Max Group AF 0.89010493 (EAS)
Exomes Max Group AF 0.49547744 (NFE)
dbSNP:
761745
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50484788T>C , CM000684.2:g.50484788T>C GRCh38
NC_000022.10:g.50923217T>C , CM000684.1:g.50923217T>C GRCh37
NC_000022.9:g.49270083T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395737.2:c.*1885T>C (ADM2) MANE Select ENSP00000379086.1:n.*1885T>C
ENST00000395738.2:c.*1885T>C (ADM2) ENSP00000379087.2:n.*1885T>C
NM_001253845.1:c.*1885T>C (ADM2) NP_001240774.1:n.*1885T>C
NM_024866.5:c.*1885T>C (ADM2) NP_079142.2:n.*1885T>C
XM_011530705.1:c.-1664T>C (MIOX) XP_011529007.1:n.-1664T>C
XR_244455.2:n.801T>C (MIOX)
XM_011530705.2:c.-1664T>C (MIOX) XP_011529007.1:n.-1664T>C
XM_017028940.1:c.*1885T>C (ADM2) XP_016884429.1:n.*1885T>C
NM_001253845.2:c.*1885T>C (ADM2) MANE Select NP_001240774.1:n.*1885T>C
NM_001369882.1:c.*1885T>C (ADM2) NP_001356811.1:n.*1885T>C
Search 100 bp 5'
Search 100 bp 3'