Canonical Allele Identifier: CA337647152
Gene: RBMY2QP HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.10029131A>G , CM000686.2:g.10029131A>G GRCh38
NC_000024.9:g.9866740A>G , CM000686.1:g.9866740A>G GRCh37
NC_000024.8:g.10476740A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651645.1:n.525+1258T>C
ENST00000429799.1:n.379+1258T>C