Canonical Allele Identifier: CA10626644

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 361142
• ClinVar RCV Id: RCV000293107 ; RCV000338762 ; RCV001594996
• dbSNP Id: rs3735721
• gnomAD v2: 8-103217695-A-G
• gnomAD v3: 8-102205467-A-G
• gnomAD v4: 8-102205467-A-G
• MyVariant Identifiers: chr8:g.103217695A>G (hg19) ; chr8:g.102205467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102205467A>G , CM000670.2:g.102205467A>G	GRCh38
NC_000008.10:g.103217695A>G , CM000670.1:g.103217695A>G	GRCh37
NC_000008.9:g.103286871A>G	NCBI36
NG_016617.1:g.38652T>C , LRG_788:g.38652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.*2666T>C MANE Select	ENSP00000251810.3:n.*2666T>C
ENST00000251810.7:c.*2666T>C	ENSP00000251810.3:n.*2666T>C
NM_001172477.1:c.*2666T>C , LRG_788t1:c.*2666T>C	NP_001165948.1:n.*2666T>C
NM_001172478.1:c.*2666T>C	NP_001165949.1:n.*2666T>C
NM_015713.4:c.*2666T>C , LRG_788t2:c.*2666T>C	NP_056528.2:n.*2666T>C
NM_001172478.2:c.*2666T>C	NP_001165949.1:n.*2666T>C
NM_015713.5:c.*2666T>C MANE Select	NP_056528.2:n.*2666T>C