Canonical Allele Identifier: CA4830951

Gene: RRM2B

Linked Data

• dbSNP Id: rs749488858
• ExAC: 8:103220340 A / C
• gnomAD v2: 8-103220340-A-C
• gnomAD v4: 8-102208112-A-C
• MyVariant Identifiers: chr8:g.103220340A>C (hg19) ; chr8:g.102208112A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208112A>C , CM000670.2:g.102208112A>C	GRCh38
NC_000008.10:g.103220340A>C , CM000670.1:g.103220340A>C	GRCh37
NC_000008.9:g.103289516A>C	NCBI36
NG_016617.1:g.36007T>G , LRG_788:g.36007T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.*21T>G MANE Select	ENSP00000251810.3:n.*21T>G
ENST00000251810.7:c.*21T>G	ENSP00000251810.3:n.*21T>G
ENST00000395910.6:n.464T>G
ENST00000522368.5:c.1246T>G
ENST00000621845.1:c.*21T>G	ENSP00000484318.1:n.*21T>G
NM_001172477.1:c.*21T>G , LRG_788t1:c.*21T>G	NP_001165948.1:n.*21T>G
NM_001172478.1:c.*21T>G	NP_001165949.1:n.*21T>G
NM_015713.4:c.*21T>G , LRG_788t2:c.*21T>G	NP_056528.2:n.*21T>G
NM_001172478.2:c.*21T>G	NP_001165949.1:n.*21T>G
NM_015713.5:c.*21T>G MANE Select	NP_056528.2:n.*21T>G