Canonical Allele Identifier: CA14211816
Gene: RMI2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.11312946C>T
GRCh37 chr16:g.11406803C>T
gnomAD v2:
16:11406803 C / T
gnomAD v3:
16:11312946 C / T
gnomAD v4:
chr16-11312946-C-T
Joint Max Group AF 0.33673735 (NFE)
Genomes Max Group AF 0.33679424 (NFE)
Exomes Max Group AF 0.14020386 (NFE)
dbSNP:
7191700
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11312946C>T , CM000678.2:g.11312946C>T GRCh38
NC_000016.9:g.11406803C>T , CM000678.1:g.11406803C>T GRCh37
NC_000016.8:g.11314304C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649869.1:n.152+63168C>T
ENST00000572173.1:c.-328+9C>T ENSP00000461206.1:n.-328+9C>T
ENST00000572992.1:n.38+9C>T
ENST00000573910.1:n.161-3506C>T
XR_933070.1:n.733+63168C>T
XR_933070.3:n.876+63168C>T
XR_933073.2:n.98+9C>T
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