Canonical Allele Identifier: CA4830952
Gene: RRM2B HGNC NCBI

Linked Data

ClinVar Variation Id: 361175
ClinVar RCV Id: RCV000278088 RCV000342400 RCV000424236
dbSNP Id: rs29000285
ExAC: 8:103220350 C / T
gnomAD v2: 8-103220350-C-T
gnomAD v3: 8-102208122-C-T
gnomAD v4: 8-102208122-C-T
MyVariant Identifiers: chr8:g.103220350C>T (hg19) chr8:g.102208122C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102208122C>T , CM000670.2:g.102208122C>T GRCh38
NC_000008.10:g.103220350C>T , CM000670.1:g.103220350C>T GRCh37
NC_000008.9:g.103289526C>T NCBI36
NG_016617.1:g.35997G>A , LRG_788:g.35997G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251810.8:c.*11G>A MANE Select ENSP00000251810.3:n.*11G>A
ENST00000251810.7:c.*11G>A ENSP00000251810.3:n.*11G>A
ENST00000395910.6:n.454G>A
ENST00000522368.5:c.1236G>A
ENST00000621845.1:c.*11G>A ENSP00000484318.1:n.*11G>A
NM_001172477.1:c.*11G>A , LRG_788t1:c.*11G>A NP_001165948.1:n.*11G>A
NM_001172478.1:c.*11G>A NP_001165949.1:n.*11G>A
NM_015713.4:c.*11G>A , LRG_788t2:c.*11G>A NP_056528.2:n.*11G>A
NM_001172478.2:c.*11G>A NP_001165949.1:n.*11G>A
NM_015713.5:c.*11G>A MANE Select NP_056528.2:n.*11G>A
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