Canonical Allele Identifier: CA213027
Gene: RRM2B HGNC NCBI

Linked Data

ClinVar Variation Id: 30433
ClinVar RCV Id: RCV000023386 RCV000119015
dbSNP Id: rs515726201
MyVariant Identifiers: chr8:g.103220452dupT (hg19) chr8:g.102208224dupT (hg38)
PubMed: PMID:21646632 PMID:24741716
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102208226dup , CM000670.2:g.102208226dup GRCh38
NC_000008.10:g.103220454dup , CM000670.1:g.103220454dup GRCh37
NC_000008.9:g.103289630dup NCBI36
NG_016617.1:g.35895dup , LRG_788:g.35895dup

Transcript Alleles

HGVS Amino-acid change
ENST00000251810.8:c.965dup MANE Select ENSP00000251810.3:p.Asn322LysfsTer4
ENST00000251810.7:c.965dup ENSP00000251810.3:p.Asn322LysfsTer4
ENST00000395910.6:n.352dup
ENST00000395912.6:c.809dup ENSP00000379248.2:p.Asn270LysfsTer4
ENST00000519317.5:c.329dup ENSP00000430641.1:p.Asn110LysfsTer4
ENST00000519962.5:c.110dup ENSP00000429140.1:p.Asn37LysfsTer4
ENST00000522368.5:c.1134dup
ENST00000522394.1:c.298dup ENSP00000429578.1:n.298dup
ENST00000621845.1:c.803dup ENSP00000484318.1:p.Asn268LysfsTer4
NM_001172477.1:c.1181dup , LRG_788t1:c.1181dup NP_001165948.1:p.Asn394LysfsTer4
NM_001172478.1:c.809dup NP_001165949.1:p.Asn270LysfsTer4
NM_015713.4:c.965dup , LRG_788t2:c.965dup NP_056528.2:p.Asn322LysfsTer4
NM_001172478.2:c.809dup NP_001165949.1:p.Asn270LysfsTer4
NM_015713.5:c.965dup MANE Select NP_056528.2:p.Asn322LysfsTer4
Search 100 bp 5'
Search 100 bp 3'