Canonical Allele Identifier: CA14362552
Gene: RMI2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.11254354C>G
GRCh37 chr16:g.11348211C>G
gnomAD v2:
16:11348211 C / G
gnomAD v3:
16:11254354 C / G
gnomAD v4:
chr16-11254354-C-G
Joint Max Group AF 0.28975072 (NFE)
Genomes Max Group AF 0.2936744 (NFE)
Exomes Max Group AF 0.27747812 (NFE)
dbSNP:
33932899
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11254354C>G , CM000678.2:g.11254354C>G GRCh38
NC_000016.9:g.11348211C>G , CM000678.1:g.11348211C>G GRCh37
NC_000016.8:g.11255712C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649869.1:n.152+4576C>G
ENST00000572173.1:c.-516+4576C>G ENSP00000461206.1:n.-516+4576C>G
ENST00000573910.1:n.160+4576C>G
XR_933070.1:n.733+4576C>G
XR_933070.3:n.876+4576C>G
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