Canonical Allele Identifier: CA4830963

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 361176
• ClinVar RCV Id: RCV000303281 ; RCV000392494 ; RCV003766074
• dbSNP Id: rs201440849
• ExAC: 8:103220504 C / A
• gnomAD v2: 8-103220504-C-A
• gnomAD v3: 8-102208276-C-A
• gnomAD v4: 8-102208276-C-A
• MyVariant Identifiers: chr8:g.103220504C>A (hg19) ; chr8:g.102208276C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208276C>A , CM000670.2:g.102208276C>A	GRCh38
NC_000008.10:g.103220504C>A , CM000670.1:g.103220504C>A	GRCh37
NC_000008.9:g.103289680C>A	NCBI36
NG_016617.1:g.35843G>T , LRG_788:g.35843G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.913G>T MANE Select	ENSP00000251810.3:p.Ala305Ser
ENST00000251810.7:c.913G>T	ENSP00000251810.3:p.Ala305Ser
ENST00000395910.6:n.300G>T
ENST00000395912.6:c.757G>T	ENSP00000379248.2:p.Ala253Ser
ENST00000519317.5:c.277G>T	ENSP00000430641.1:p.Ala93Ser
ENST00000519962.5:c.58G>T	ENSP00000429140.1:p.Ala20Ser
ENST00000522368.5:c.1082G>T
ENST00000522394.1:c.246G>T	ENSP00000429578.1:n.246G>T
ENST00000621845.1:c.751G>T	ENSP00000484318.1:p.Ala251Ser
NM_001172477.1:c.1129G>T , LRG_788t1:c.1129G>T	NP_001165948.1:p.Ala377Ser
NM_001172478.1:c.757G>T	NP_001165949.1:p.Ala253Ser
NM_015713.4:c.913G>T , LRG_788t2:c.913G>T	NP_056528.2:p.Ala305Ser
NM_001172478.2:c.757G>T	NP_001165949.1:p.Ala253Ser
NM_015713.5:c.913G>T MANE Select	NP_056528.2:p.Ala305Ser