Canonical Allele Identifier: CA278288689
Gene: RMI2 HGNC NCBI
COSMIC:
COSN22119364 (not active)
MyVariant.info:
GRCh38 chr16:g.11358685C>T
GRCh37 chr16:g.11452542C>T
gnomAD v2:
16:11452542 C / T
gnomAD v3:
16:11358685 C / T
gnomAD v4:
chr16-11358685-C-T
Joint Max Group AF 0.33831941 (EAS)
Genomes Max Group AF 0.33831941 (EAS)
dbSNP:
77061563
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11358685C>T , CM000678.2:g.11358685C>T GRCh38
NC_000016.9:g.11452542C>T , CM000678.1:g.11452542C>T GRCh37
NC_000016.8:g.11360043C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648619.1:c.295+12919C>T ENSP00000497643.1:n.295+12919C>T
ENST00000649869.1:n.153-21137C>T
XR_933070.1:n.734-21137C>T
XR_933072.1:n.688+3005C>T
XR_933073.1:n.59-21137C>T
XR_933070.3:n.877-21137C>T
XR_933072.2:n.1287+3005C>T
XR_933073.2:n.843-21137C>T
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