Canonical Allele Identifier: CA658822818
Gene: RRM2B HGNC NCBI

Linked Data

ClinVar Variation Id: 559373
ClinVar RCV Id: RCV000677046
dbSNP Id: rs1314882154
gnomAD v3: 8-102208128-G-GT
gnomAD v4: 8-102208128-G-GT
MyVariant Identifiers: chr8:g.103220357dup (hg19) chr8:g.103220356_103220357insT (hg19) chr8:g.102208129dup (hg38) chr8:g.102208128_102208129insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102208134dup , CM000670.2:g.102208134dup GRCh38
NC_000008.10:g.103220362dup , CM000670.1:g.103220362dup GRCh37
NC_000008.9:g.103289538dup NCBI36
NG_016617.1:g.35990dup , LRG_788:g.35990dup

Transcript Alleles

HGVS Amino-acid change
ENST00000251810.8:c.*4dup MANE Select ENSP00000251810.3:n.*4dup
ENST00000251810.7:c.*4dup ENSP00000251810.3:n.*4dup
ENST00000395910.6:n.447dup
ENST00000522368.5:c.1229dup
ENST00000621845.1:c.*4dup ENSP00000484318.1:n.*4dup
NM_001172477.1:c.*4dup , LRG_788t1:c.*4dup NP_001165948.1:n.*4dup
NM_001172478.1:c.*4dup NP_001165949.1:n.*4dup
NM_015713.4:c.*4dup , LRG_788t2:c.*4dup NP_056528.2:n.*4dup
NM_001172478.2:c.*4dup NP_001165949.1:n.*4dup
NM_015713.5:c.*4dup MANE Select NP_056528.2:n.*4dup
Search 100 bp 5'
Search 100 bp 3'