Canonical Allele Identifier: CA278232668
Gene: RMI2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.11254354C>T
GRCh37 chr16:g.11348211C>T
gnomAD v3:
16:11254354 C / T
gnomAD v4:
chr16-11254354-C-T
Joint Max Group AF 0.00328932 (EAS)
Genomes Max Group AF 0.00193745 (EAS)
Exomes Max Group AF 0.00364583 (EAS)
dbSNP:
33932899
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Genomic Alleles

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

Transcript Alleles

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