Canonical Allele Identifier: CA620824218

Gene: RMI2

Linked Data

• dbSNP Id: rs1355011348
• gnomAD v2: 16-11375335-A-G
• gnomAD v3: 16-11281478-A-G
• gnomAD v4: 16-11281478-A-G
• MyVariant Identifiers: chr16:g.11375335A>G (hg19) ; chr16:g.11281478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11281478A>G , CM000678.2:g.11281478A>G	GRCh38
NC_000016.9:g.11375335A>G , CM000678.1:g.11375335A>G	GRCh37
NC_000016.8:g.11282836A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649869.1:n.152+31700A>G
ENST00000572173.1:c.-515-13738A>G	ENSP00000461206.1:n.-515-13738A>G
ENST00000573910.1:n.160+31700A>G
XR_933070.1:n.733+31700A>G
XR_933070.3:n.876+31700A>G