Canonical Allele Identifier: CA371596237

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102232242-C-G
• MyVariant Identifiers: chr8:g.103244470C>G (hg19) ; chr8:g.102232242C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232242C>G , CM000670.2:g.102232242C>G	GRCh38
NC_000008.10:g.103244470C>G , CM000670.1:g.103244470C>G	GRCh37
NC_000008.9:g.103313646C>G	NCBI36
NG_016617.1:g.11877G>C , LRG_788:g.11877G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.111G>C MANE Select	ENSP00000251810.3:p.Lys37Asn
ENST00000251810.7:c.111G>C	ENSP00000251810.3:p.Lys37Asn
ENST00000395912.6:c.49-6208G>C	ENSP00000379248.2:n.49-6208G>C
ENST00000517517.1:n.420G>C
ENST00000519317.5:c.48+6585G>C	ENSP00000430641.1:n.48+6585G>C
ENST00000519962.5:c.48+6585G>C	ENSP00000429140.1:n.48+6585G>C
ENST00000522368.5:c.280G>C
ENST00000522394.1:c.111G>C	ENSP00000429578.1:p.Lys37Asn
ENST00000523957.1:c.*34G>C	ENSP00000427830.1:n.*34G>C
ENST00000621845.1:c.-52G>C	ENSP00000484318.1:n.-52G>C
NM_001172477.1:c.327G>C , LRG_788t1:c.327G>C	NP_001165948.1:p.Lys109Asn
NM_001172478.1:c.49-6208G>C	NP_001165949.1:n.49-6208G>C
NM_015713.4:c.111G>C , LRG_788t2:c.111G>C	NP_056528.2:p.Lys37Asn
NM_001172478.2:c.49-6208G>C	NP_001165949.1:n.49-6208G>C
NM_015713.5:c.111G>C MANE Select	NP_056528.2:p.Lys37Asn