Canonical Allele Identifier: CA717999169

Gene: RMI2

Linked Data

• dbSNP Id: rs550836155
• gnomAD v2: 16-11387004-C-T
• gnomAD v3: 16-11293147-C-T
• gnomAD v4: 16-11293147-C-T
• MyVariant Identifiers: chr16:g.11387004C>T (hg19) ; chr16:g.11293147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11293147C>T , CM000678.2:g.11293147C>T	GRCh38
NC_000016.9:g.11387004C>T , CM000678.1:g.11387004C>T	GRCh37
NC_000016.8:g.11294505C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+43369C>T
ENST00000572173.1:c.-515-2069C>T	ENSP00000461206.1:n.-515-2069C>T
ENST00000573910.1:n.161-23305C>T
XR_933070.1:n.733+43369C>T
XR_933070.3:n.876+43369C>T