Canonical Allele Identifier: CA2110109
Gene: RNF25 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.218665938C>T
GRCh37 chr2:g.219530661C>T
Revel Score:
ENST00000295704 (MANE Select) 0.038
gnomAD v2:
2:219530661 C / T
gnomAD v3:
2:218665938 C / T
gnomAD v4:
chr2-218665938-C-T
Joint Max Group AF 0.00008145 (AFR)
Genomes Max Group AF 0.00006274 (AFR)
Exomes Max Group AF 0.00005849 (AFR)
ClinVar RCV:
RCV004264226
ClinVar Variation:
2471722
dbSNP:
115176595
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218665938C>T , CM000664.2:g.218665938C>T GRCh38
NC_000002.11:g.219530661C>T , CM000664.1:g.219530661C>T GRCh37
NC_000002.10:g.219238905C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295704.7:c.551G>A MANE Select ENSP00000295704.2:p.Arg184Gln
ENST00000295704.6:c.551G>A ENSP00000295704.2:p.Arg184Gln
ENST00000423170.1:c.508G>A ENSP00000403582.1:n.508G>A
ENST00000463188.5:n.590G>A
ENST00000473034.5:n.913G>A
ENST00000497832.1:n.379G>A
NM_022453.2:c.551G>A NP_071898.2:p.Arg184Gln
XM_011511632.1:c.47G>A XP_011509934.1:p.Arg16Gln
XM_017004695.2:c.215G>A XP_016860184.1:p.Arg72Gln
NM_022453.3:c.551G>A MANE Select NP_071898.2:p.Arg184Gln
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