Canonical Allele Identifier: CA278238620

Gene: RMI2

Linked Data

• dbSNP Id: rs941215282
• gnomAD v2: 16-11386968-G-A
• gnomAD v3: 16-11293111-G-A
• gnomAD v4: 16-11293111-G-A
• MyVariant Identifiers: chr16:g.11386968G>A (hg19) ; chr16:g.11293111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11293111G>A , CM000678.2:g.11293111G>A	GRCh38
NC_000016.9:g.11386968G>A , CM000678.1:g.11386968G>A	GRCh37
NC_000016.8:g.11294469G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+43333G>A
ENST00000572173.1:c.-515-2105G>A	ENSP00000461206.1:n.-515-2105G>A
ENST00000573910.1:n.161-23341G>A
XR_933070.1:n.733+43333G>A
XR_933070.3:n.876+43333G>A