Canonical Allele Identifier: CA278243132

Gene: RMI2

Linked Data

• dbSNP Id: rs754873212
• gnomAD v2: 16-11403857-C-G
• gnomAD v3: 16-11310000-C-G
• gnomAD v4: 16-11310000-C-G
• MyVariant Identifiers: chr16:g.11403857C>G (hg19) ; chr16:g.11310000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11310000C>G , CM000678.2:g.11310000C>G	GRCh38
NC_000016.9:g.11403857C>G , CM000678.1:g.11403857C>G	GRCh37
NC_000016.8:g.11311358C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+60222C>G
ENST00000572173.1:c.-436-2829C>G	ENSP00000461206.1:n.-436-2829C>G
ENST00000573910.1:n.161-6452C>G
XR_933070.1:n.733+60222C>G
XR_933070.3:n.876+60222C>G