Canonical Allele Identifier: CA345571
Gene: RRM2B HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.102225012G>A
GRCh37 chr8:g.103237240G>A
Revel Score:
ENST00000522368 0.733
ENST00000251810 (MANE Select) 0.842
ENST00000535248 0.842
ENST00000395912 0.842
gnomAD v2:
8:103237240 G / A
gnomAD v3:
8:102225012 G / A
gnomAD v4:
chr8-102225012-G-A
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000118991
RCV002262712
ClinVar Variation:
132112
dbSNP:
515726186
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102225012G>A , CM000670.2:g.102225012G>A GRCh38
NC_000008.10:g.103237240G>A , CM000670.1:g.103237240G>A GRCh37
NC_000008.9:g.103306416G>A NCBI36
NG_016617.1:g.19107C>T , LRG_788:g.19107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.328C>T MANE Select ENSP00000251810.3:p.Arg110Cys
ENST00000251810.7:c.328C>T ENSP00000251810.3:p.Arg110Cys
ENST00000395912.6:c.172C>T ENSP00000379248.2:p.Arg58Cys
ENST00000519317.5:c.49-10854C>T ENSP00000430641.1:n.49-10854C>T
ENST00000519962.5:c.48+13815C>T ENSP00000429140.1:n.48+13815C>T
ENST00000522368.5:c.497C>T
ENST00000522394.1:c.122+7219C>T ENSP00000429578.1:n.122+7219C>T
ENST00000523957.1:c.*251C>T ENSP00000427830.1:n.*251C>T
ENST00000621845.1:c.166C>T ENSP00000484318.1:p.Arg56Cys
NM_001172477.1:c.544C>T , LRG_788t1:c.544C>T NP_001165948.1:p.Arg182Cys
NM_001172478.1:c.172C>T NP_001165949.1:p.Arg58Cys
NM_015713.4:c.328C>T , LRG_788t2:c.328C>T NP_056528.2:p.Arg110Cys
NM_001172478.2:c.172C>T NP_001165949.1:p.Arg58Cys
NM_015713.5:c.328C>T MANE Select NP_056528.2:p.Arg110Cys
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