Canonical Allele Identifier: CA345551
Gene: RRM2B HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.102232231C>T
GRCh37 chr8:g.103244459C>T
Revel Score:
ENST00000251810 (MANE Select) 0.881
ENST00000522394 0.881
gnomAD v2:
8:103244459 C / T
gnomAD v3:
8:102232231 C / T
gnomAD v4:
chr8-102232231-C-T
Joint Max Group AF 0.00002154 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00002083 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102232231C>T , CM000670.2:g.102232231C>T GRCh38
NC_000008.10:g.103244459C>T , CM000670.1:g.103244459C>T GRCh37
NC_000008.9:g.103313635C>T NCBI36
NG_016617.1:g.11888G>A , LRG_788:g.11888G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.122G>A MANE Select ENSP00000251810.3:p.Arg41Gln
ENST00000251810.7:c.122G>A ENSP00000251810.3:p.Arg41Gln
ENST00000395912.6:c.49-6197G>A ENSP00000379248.2:n.49-6197G>A
ENST00000517517.1:n.431G>A
ENST00000519317.5:c.48+6596G>A ENSP00000430641.1:n.48+6596G>A
ENST00000519962.5:c.48+6596G>A ENSP00000429140.1:n.48+6596G>A
ENST00000522368.5:c.291G>A
ENST00000522394.1:c.122G>A ENSP00000429578.1:p.Arg41Gln
ENST00000523957.1:c.*45G>A ENSP00000427830.1:n.*45G>A
ENST00000621845.1:c.-41G>A ENSP00000484318.1:n.-41G>A
NM_001172477.1:c.338G>A , LRG_788t1:c.338G>A NP_001165948.1:p.Arg113Gln
NM_001172478.1:c.49-6197G>A NP_001165949.1:n.49-6197G>A
NM_015713.4:c.122G>A , LRG_788t2:c.122G>A NP_056528.2:p.Arg41Gln
NM_001172478.2:c.49-6197G>A NP_001165949.1:n.49-6197G>A
NM_015713.5:c.122G>A MANE Select NP_056528.2:p.Arg41Gln
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