Canonical Allele Identifier: CA620824217
Gene: RMI2 HGNC NCBI

Linked Data

dbSNP Id: rs1199636167
gnomAD v2: 16-11375297-G-GTCCATATATGGGCAT
gnomAD v3: 16-11281440-G-GTCCATATATGGGCAT
gnomAD v4: 16-11281440-G-GTCCATATATGGGCAT
MyVariant Identifiers: chr16:g.11375297_11375298insTCCATATATGGGCAT (hg19) chr16:g.11281440_11281441insTCCATATATGGGCAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11281442_11281456dup , CM000678.2:g.11281442_11281456dup GRCh38
NC_000016.9:g.11375299_11375313dup , CM000678.1:g.11375299_11375313dup GRCh37
NC_000016.8:g.11282800_11282814dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649869.1:n.152+31664_152+31678dup
ENST00000572173.1:c.-515-13774_-515-13760dup ENSP00000461206.1:n.-515-13774_-515-13760dup
ENST00000573910.1:n.160+31664_160+31678dup
XR_933070.1:n.733+31664_733+31678dup
XR_933070.3:n.876+31664_876+31678dup
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