Canonical Allele Identifier: CA371585277

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 1908106
• ClinVar RCV Id: RCV002581306
• gnomAD v4: 8-102208161-T-A
• MyVariant Identifiers: chr8:g.103220389T>A (hg19) ; chr8:g.102208161T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208161T>A , CM000670.2:g.102208161T>A	GRCh38
NC_000008.10:g.103220389T>A , CM000670.1:g.103220389T>A	GRCh37
NC_000008.9:g.103289565T>A	NCBI36
NG_016617.1:g.35958A>T , LRG_788:g.35958A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.1028A>T MANE Select	ENSP00000251810.3:p.Asn343Ile
ENST00000251810.7:c.1028A>T	ENSP00000251810.3:p.Asn343Ile
ENST00000395910.6:n.415A>T
ENST00000395912.6:c.872A>T	ENSP00000379248.2:p.Asn291Ile
ENST00000519317.5:c.392A>T	ENSP00000430641.1:p.Asn131Ile
ENST00000519962.5:c.173A>T	ENSP00000429140.1:p.Asn58Ile
ENST00000522368.5:c.1197A>T
ENST00000522394.1:c.361A>T	ENSP00000429578.1:n.361A>T
ENST00000621845.1:c.866A>T	ENSP00000484318.1:p.Asn289Ile
NM_001172477.1:c.1244A>T , LRG_788t1:c.1244A>T	NP_001165948.1:p.Asn415Ile
NM_001172478.1:c.872A>T	NP_001165949.1:p.Asn291Ile
NM_015713.4:c.1028A>T , LRG_788t2:c.1028A>T	NP_056528.2:p.Asn343Ile
NM_001172478.2:c.872A>T	NP_001165949.1:p.Asn291Ile
NM_015713.5:c.1028A>T MANE Select	NP_056528.2:p.Asn343Ile