Canonical Allele Identifier: CA371585264

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 2969690
• ClinVar RCV Id: RCV003821824
• dbSNP Id: rs1377258176
• gnomAD v2: 8-103220386-A-G
• gnomAD v3: 8-102208158-A-G
• gnomAD v4: 8-102208158-A-G
• MyVariant Identifiers: chr8:g.103220386A>G (hg19) ; chr8:g.102208158A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208158A>G , CM000670.2:g.102208158A>G	GRCh38
NC_000008.10:g.103220386A>G , CM000670.1:g.103220386A>G	GRCh37
NC_000008.9:g.103289562A>G	NCBI36
NG_016617.1:g.35961T>C , LRG_788:g.35961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.1031T>C MANE Select	ENSP00000251810.3:p.Val344Ala
ENST00000251810.7:c.1031T>C	ENSP00000251810.3:p.Val344Ala
ENST00000395910.6:n.418T>C
ENST00000395912.6:c.875T>C	ENSP00000379248.2:p.Val292Ala
ENST00000519317.5:c.395T>C	ENSP00000430641.1:p.Val132Ala
ENST00000519962.5:c.176T>C	ENSP00000429140.1:p.Val59Ala
ENST00000522368.5:c.1200T>C
ENST00000522394.1:c.364T>C	ENSP00000429578.1:n.364T>C
ENST00000621845.1:c.869T>C	ENSP00000484318.1:p.Val290Ala
NM_001172477.1:c.1247T>C , LRG_788t1:c.1247T>C	NP_001165948.1:p.Val416Ala
NM_001172478.1:c.875T>C	NP_001165949.1:p.Val292Ala
NM_015713.4:c.1031T>C , LRG_788t2:c.1031T>C	NP_056528.2:p.Val344Ala
NM_001172478.2:c.875T>C	NP_001165949.1:p.Val292Ala
NM_015713.5:c.1031T>C MANE Select	NP_056528.2:p.Val344Ala