Canonical Allele Identifier: CA620826238

Gene: RMI2

Linked Data

• dbSNP Id: rs1302850341
• gnomAD v2: 16-11403862-T-TC
• gnomAD v3: 16-11310005-T-TC
• gnomAD v4: 16-11310005-T-TC
• MyVariant Identifiers: chr16:g.11403862_11403863insC (hg19) ; chr16:g.11310005_11310006insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11310005_11310006insC , CM000678.2:g.11310005_11310006insC	GRCh38
NC_000016.9:g.11403862_11403863insC , CM000678.1:g.11403862_11403863insC	GRCh37
NC_000016.8:g.11311363_11311364insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+60227_152+60228insC
ENST00000572173.1:c.-436-2824_-436-2823insC	ENSP00000461206.1:n.-436-2824_-436-2823insC
ENST00000573910.1:n.161-6447_161-6446insC
XR_933070.1:n.733+60227_733+60228insC
XR_933070.3:n.876+60227_876+60228insC