Canonical Allele Identifier: CA1117302038

Gene: RRM2B

Linked Data

• dbSNP Id: rs1810781396
• gnomAD v3: 8-102218983-T-C
• gnomAD v4: 8-102218983-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102218983T>C , CM000670.2:g.102218983T>C	GRCh38
NC_000008.10:g.103231211T>C , CM000670.1:g.103231211T>C	GRCh37
NC_000008.9:g.103300387T>C	NCBI36
NG_016617.1:g.25136A>G , LRG_788:g.25136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.551-36A>G MANE Select	ENSP00000251810.3:n.551-36A>G
ENST00000251810.7:c.551-36A>G	ENSP00000251810.3:n.551-36A>G
ENST00000395912.6:c.395-36A>G	ENSP00000379248.2:n.395-36A>G
ENST00000519125.1:n.33A>G
ENST00000519317.5:c.49-4825A>G	ENSP00000430641.1:n.49-4825A>G
ENST00000519962.5:c.49-10698A>G	ENSP00000429140.1:n.49-10698A>G
ENST00000522368.5:c.720-36A>G
ENST00000522394.1:c.123-6094A>G	ENSP00000429578.1:n.123-6094A>G
ENST00000621845.1:c.389-36A>G	ENSP00000484318.1:n.389-36A>G
NM_001172477.1:c.767-36A>G , LRG_788t1:c.767-36A>G	NP_001165948.1:n.767-36A>G
NM_001172478.1:c.395-36A>G	NP_001165949.1:n.395-36A>G
NM_015713.4:c.551-36A>G , LRG_788t2:c.551-36A>G	NP_056528.2:n.551-36A>G
NM_001172478.2:c.395-36A>G	NP_001165949.1:n.395-36A>G
NM_015713.5:c.551-36A>G MANE Select	NP_056528.2:n.551-36A>G