Canonical Allele Identifier: CA4830991

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 361177
• ClinVar RCV Id: RCV000308909 ; RCV000363537 ; RCV002523609
• dbSNP Id: rs573435546
• ExAC: 8:103225126 A / G
• gnomAD v2: 8-103225126-A-G
• gnomAD v3: 8-102212898-A-G
• gnomAD v4: 8-102212898-A-G
• MyVariant Identifiers: chr8:g.103225126A>G (hg19) ; chr8:g.102212898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102212898A>G , CM000670.2:g.102212898A>G	GRCh38
NC_000008.10:g.103225126A>G , CM000670.1:g.103225126A>G	GRCh37
NC_000008.9:g.103294302A>G	NCBI36
NG_016617.1:g.31221T>C , LRG_788:g.31221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.790-9T>C MANE Select	ENSP00000251810.3:n.790-9T>C
ENST00000251810.7:c.790-9T>C	ENSP00000251810.3:n.790-9T>C
ENST00000395910.6:n.177-9T>C
ENST00000395912.6:c.634-9T>C	ENSP00000379248.2:n.634-9T>C
ENST00000519125.1:n.308-9T>C
ENST00000519317.5:c.154-9T>C	ENSP00000430641.1:n.154-9T>C
ENST00000519962.5:c.49-4613T>C	ENSP00000429140.1:n.49-4613T>C
ENST00000522368.5:c.959-9T>C
ENST00000522394.1:c.123-9T>C	ENSP00000429578.1:n.123-9T>C
ENST00000621845.1:c.628-9T>C	ENSP00000484318.1:n.628-9T>C
NM_001172477.1:c.1006-9T>C , LRG_788t1:c.1006-9T>C	NP_001165948.1:n.1006-9T>C
NM_001172478.1:c.634-9T>C	NP_001165949.1:n.634-9T>C
NM_015713.4:c.790-9T>C , LRG_788t2:c.790-9T>C	NP_056528.2:n.790-9T>C
NM_001172478.2:c.634-9T>C	NP_001165949.1:n.634-9T>C
NM_015713.5:c.790-9T>C MANE Select	NP_056528.2:n.790-9T>C