Canonical Allele Identifier: CA278243136

Gene: RMI2

Linked Data

• dbSNP Id: rs7193797
• gnomAD v2: 16-11403863-G-C
• gnomAD v3: 16-11310006-G-C
• gnomAD v4: 16-11310006-G-C
• MyVariant Identifiers: chr16:g.11403863G>C (hg19) ; chr16:g.11310006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11310006G>C , CM000678.2:g.11310006G>C	GRCh38
NC_000016.9:g.11403863G>C , CM000678.1:g.11403863G>C	GRCh37
NC_000016.8:g.11311364G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+60228G>C
ENST00000572173.1:c.-436-2823G>C	ENSP00000461206.1:n.-436-2823G>C
ENST00000573910.1:n.161-6446G>C
XR_933070.1:n.733+60228G>C
XR_933070.3:n.876+60228G>C