Canonical Allele Identifier: CA4830946

Gene: RRM2B

Linked Data

• dbSNP Id: rs755504563
• ExAC: 8:103220313 T / C
• gnomAD v2: 8-103220313-T-C
• gnomAD v4: 8-102208085-T-C
• MyVariant Identifiers: chr8:g.103220313T>C (hg19) ; chr8:g.102208085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208085T>C , CM000670.2:g.102208085T>C	GRCh38
NC_000008.10:g.103220313T>C , CM000670.1:g.103220313T>C	GRCh37
NC_000008.9:g.103289489T>C	NCBI36
NG_016617.1:g.36034A>G , LRG_788:g.36034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.*48A>G MANE Select	ENSP00000251810.3:n.*48A>G
ENST00000251810.7:c.*48A>G	ENSP00000251810.3:n.*48A>G
ENST00000395910.6:n.491A>G
ENST00000522368.5:c.1273A>G
ENST00000621845.1:c.*48A>G	ENSP00000484318.1:n.*48A>G
NM_001172477.1:c.*48A>G , LRG_788t1:c.*48A>G	NP_001165948.1:n.*48A>G
NM_001172478.1:c.*48A>G	NP_001165949.1:n.*48A>G
NM_015713.4:c.*48A>G , LRG_788t2:c.*48A>G	NP_056528.2:n.*48A>G
NM_001172478.2:c.*48A>G	NP_001165949.1:n.*48A>G
NM_015713.5:c.*48A>G MANE Select	NP_056528.2:n.*48A>G