Canonical Allele Identifier: CA10629749

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 361149
• ClinVar RCV Id: RCV000276092 ; RCV000331163
• dbSNP Id: rs563908556
• gnomAD v2: 8-103218209-A-AT
• gnomAD v3: 8-102205981-A-AT
• gnomAD v4: 8-102205981-A-AT
• MyVariant Identifiers: chr8:g.103218209_103218210insT (hg19) ; chr8:g.102205981_102205982insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102205981_102205982insT , CM000670.2:g.102205981_102205982insT	GRCh38
NC_000008.10:g.103218209_103218210insT , CM000670.1:g.103218209_103218210insT	GRCh37
NC_000008.9:g.103287385_103287386insT	NCBI36
NG_016617.1:g.38137_38138insA , LRG_788:g.38137_38138insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.*2151_*2152insA MANE Select	ENSP00000251810.3:n.*2151_*2152insA
ENST00000251810.7:c.*2151_*2152insA	ENSP00000251810.3:n.*2151_*2152insA
ENST00000621845.1:c.*1901_*1902insA	ENSP00000484318.1:n.*1901_*1902insA
NM_001172477.1:c.*2151_*2152insA , LRG_788t1:c.*2151_*2152insA	NP_001165948.1:n.*2151_*2152insA
NM_001172478.1:c.*2151_*2152insA	NP_001165949.1:n.*2151_*2152insA
NM_015713.4:c.*2151_*2152insA , LRG_788t2:c.*2151_*2152insA	NP_056528.2:n.*2151_*2152insA
NM_001172478.2:c.*2151_*2152insA	NP_001165949.1:n.*2151_*2152insA
NM_015713.5:c.*2151_*2152insA MANE Select	NP_056528.2:n.*2151_*2152insA