Canonical Allele Identifier: CA337772742
Gene: RBMY2OP HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.9953641G>A , CM000686.2:g.9953641G>A GRCh38
NC_000024.9:g.9791250G>A , CM000686.1:g.9791250G>A GRCh37
NC_000024.8:g.10401250G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000447105.1:n.185+1443G>A