Canonical Allele Identifier: CA620825347
Gene: RMI2 HGNC NCBI

Linked Data

dbSNP Id: rs1445105667
gnomAD v2: 16-11386756-CAG-C
gnomAD v3: 16-11292899-CAG-C
gnomAD v4: 16-11292899-CAG-C
MyVariant Identifiers: chr16:g.11386757_11386758del (hg19) chr16:g.11292900_11292901del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11292900_11292901del , CM000678.2:g.11292900_11292901del GRCh38
NC_000016.9:g.11386757_11386758del , CM000678.1:g.11386757_11386758del GRCh37
NC_000016.8:g.11294258_11294259del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649869.1:n.152+43122_152+43123del
ENST00000572173.1:c.-515-2316_-515-2315del ENSP00000461206.1:n.-515-2316_-515-2315del
ENST00000573910.1:n.161-23552_161-23551del
XR_933070.1:n.733+43122_733+43123del
XR_933070.3:n.876+43122_876+43123del
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