Canonical Allele Identifier: CA4830956

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 384037
• ClinVar RCV Id: RCV002525374
• dbSNP Id: rs775157649
• ExAC: 8:103220382 G / A
• gnomAD v2: 8-103220382-G-A
• gnomAD v3: 8-102208154-G-A
• gnomAD v4: 8-102208154-G-A
• MyVariant Identifiers: chr8:g.103220382G>A (hg19) ; chr8:g.102208154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208154G>A , CM000670.2:g.102208154G>A	GRCh38
NC_000008.10:g.103220382G>A , CM000670.1:g.103220382G>A	GRCh37
NC_000008.9:g.103289558G>A	NCBI36
NG_016617.1:g.35965C>T , LRG_788:g.35965C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251810.8:c.1035C>T MANE Select	ENSP00000251810.3:p.Phe345=
ENST00000251810.7:c.1035C>T	ENSP00000251810.3:p.Phe345=
ENST00000395910.6:n.422C>T
ENST00000395912.6:c.879C>T	ENSP00000379248.2:p.Phe293=
ENST00000519317.5:c.399C>T	ENSP00000430641.1:p.Phe133=
ENST00000519962.5:c.180C>T	ENSP00000429140.1:p.Phe60=
ENST00000522368.5:c.1204C>T
ENST00000522394.1:c.368C>T	ENSP00000429578.1:n.368C>T
ENST00000621845.1:c.873C>T	ENSP00000484318.1:p.Phe291=
NM_001172477.1:c.1251C>T , LRG_788t1:c.1251C>T	NP_001165948.1:p.Phe417=
NM_001172478.1:c.879C>T	NP_001165949.1:p.Phe293=
NM_015713.4:c.1035C>T , LRG_788t2:c.1035C>T	NP_056528.2:p.Phe345=
NM_001172478.2:c.879C>T	NP_001165949.1:p.Phe293=
NM_015713.5:c.1035C>T MANE Select	NP_056528.2:p.Phe345=