Canonical Allele Identifier: CA371586194

Gene: RRM2B

Linked Data

• dbSNP Id: rs1221068036
• gnomAD v2: 8-103220471-A-G
• gnomAD v4: 8-102208243-A-G
• MyVariant Identifiers: chr8:g.103220471A>G (hg19) ; chr8:g.102208243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208243A>G , CM000670.2:g.102208243A>G	GRCh38
NC_000008.10:g.103220471A>G , CM000670.1:g.103220471A>G	GRCh37
NC_000008.9:g.103289647A>G	NCBI36
NG_016617.1:g.35876T>C , LRG_788:g.35876T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.946T>C MANE Select	ENSP00000251810.3:p.Ser316Pro
ENST00000251810.7:c.946T>C	ENSP00000251810.3:p.Ser316Pro
ENST00000395910.6:n.333T>C
ENST00000395912.6:c.790T>C	ENSP00000379248.2:p.Ser264Pro
ENST00000519317.5:c.310T>C	ENSP00000430641.1:p.Ser104Pro
ENST00000519962.5:c.91T>C	ENSP00000429140.1:p.Ser31Pro
ENST00000522368.5:c.1115T>C
ENST00000522394.1:c.279T>C	ENSP00000429578.1:n.279T>C
ENST00000621845.1:c.784T>C	ENSP00000484318.1:p.Ser262Pro
NM_001172477.1:c.1162T>C , LRG_788t1:c.1162T>C	NP_001165948.1:p.Ser388Pro
NM_001172478.1:c.790T>C	NP_001165949.1:p.Ser264Pro
NM_015713.4:c.946T>C , LRG_788t2:c.946T>C	NP_056528.2:p.Ser316Pro
NM_001172478.2:c.790T>C	NP_001165949.1:p.Ser264Pro
NM_015713.5:c.946T>C MANE Select	NP_056528.2:p.Ser316Pro