Canonical Allele Identifier: CA345607
Gene: RRM2B HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.102218866C>T
GRCh37 chr8:g.103231094C>T
Revel Score:
ENST00000251810 (MANE Select) 0.803
ENST00000535248 0.803
ENST00000395912 0.803
gnomAD v2:
8:103231094 C / T
gnomAD v3:
8:102218866 C / T
gnomAD v4:
chr8-102218866-C-T
Joint Max Group AF 0.00003341 (NFE)
Exomes Max Group AF 0.00003459 (NFE)
ClinVar RCV:
RCV000119004
ClinVar Variation:
132121
dbSNP:
515726195
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102218866C>T , CM000670.2:g.102218866C>T GRCh38
NC_000008.10:g.103231094C>T , CM000670.1:g.103231094C>T GRCh37
NC_000008.9:g.103300270C>T NCBI36
NG_016617.1:g.25253G>A , LRG_788:g.25253G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.632G>A MANE Select ENSP00000251810.3:p.Arg211Lys
ENST00000251810.7:c.632G>A ENSP00000251810.3:p.Arg211Lys
ENST00000395912.6:c.476G>A ENSP00000379248.2:p.Arg159Lys
ENST00000519125.1:n.150G>A
ENST00000519317.5:c.49-4708G>A ENSP00000430641.1:n.49-4708G>A
ENST00000519962.5:c.49-10581G>A ENSP00000429140.1:n.49-10581G>A
ENST00000522368.5:c.801G>A
ENST00000522394.1:c.123-5977G>A ENSP00000429578.1:n.123-5977G>A
ENST00000621845.1:c.470G>A ENSP00000484318.1:p.Arg157Lys
NM_001172477.1:c.848G>A , LRG_788t1:c.848G>A NP_001165948.1:p.Arg283Lys
NM_001172478.1:c.476G>A NP_001165949.1:p.Arg159Lys
NM_015713.4:c.632G>A , LRG_788t2:c.632G>A NP_056528.2:p.Arg211Lys
NM_001172478.2:c.476G>A NP_001165949.1:p.Arg159Lys
NM_015713.5:c.632G>A MANE Select NP_056528.2:p.Arg211Lys
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