Canonical Allele Identifier: CA717999076

Gene: RMI2

Linked Data

• dbSNP Id: rs546724353
• gnomAD v3: 16-11292999-C-A
• gnomAD v4: 16-11292999-C-A
• MyVariant Identifiers: chr16:g.11386856C>A (hg19) ; chr16:g.11292999C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11292999C>A , CM000678.2:g.11292999C>A	GRCh38
NC_000016.9:g.11386856C>A , CM000678.1:g.11386856C>A	GRCh37
NC_000016.8:g.11294357C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+43221C>A
ENST00000572173.1:c.-515-2217C>A	ENSP00000461206.1:n.-515-2217C>A
ENST00000573910.1:n.161-23453C>A
XR_933070.1:n.733+43221C>A
XR_933070.3:n.876+43221C>A