Canonical Allele Identifier: CA10626613

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 361124
• ClinVar RCV Id: RCV000350970 ; RCV000407265
• dbSNP Id: rs29000294
• gnomAD v2: 8-103216768-C-T
• gnomAD v3: 8-102204540-C-T
• gnomAD v4: 8-102204540-C-T
• MyVariant Identifiers: chr8:g.103216768C>T (hg19) ; chr8:g.102204540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102204540C>T , CM000670.2:g.102204540C>T	GRCh38
NC_000008.10:g.103216768C>T , CM000670.1:g.103216768C>T	GRCh37
NC_000008.9:g.103285944C>T	NCBI36
NG_016617.1:g.39579G>A , LRG_788:g.39579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.*3593G>A MANE Select	ENSP00000251810.3:n.*3593G>A
ENST00000251810.7:c.*3593G>A	ENSP00000251810.3:n.*3593G>A
NM_001172477.1:c.*3593G>A , LRG_788t1:c.*3593G>A	NP_001165948.1:n.*3593G>A
NM_001172478.1:c.*3593G>A	NP_001165949.1:n.*3593G>A
NM_015713.4:c.*3593G>A , LRG_788t2:c.*3593G>A	NP_056528.2:n.*3593G>A
NM_001172478.2:c.*3593G>A	NP_001165949.1:n.*3593G>A
NM_015713.5:c.*3593G>A MANE Select	NP_056528.2:n.*3593G>A