Canonical Allele Identifier: CA371586250

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 2064259
• ClinVar RCV Id: RCV002943332
• MyVariant Identifiers: chr8:g.103220477T>A (hg19) ; chr8:g.102208249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208249T>A , CM000670.2:g.102208249T>A	GRCh38
NC_000008.10:g.103220477T>A , CM000670.1:g.103220477T>A	GRCh37
NC_000008.9:g.103289653T>A	NCBI36
NG_016617.1:g.35870A>T , LRG_788:g.35870A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.940A>T MANE Select	ENSP00000251810.3:p.Asn314Tyr
ENST00000251810.7:c.940A>T	ENSP00000251810.3:p.Asn314Tyr
ENST00000395910.6:n.327A>T
ENST00000395912.6:c.784A>T	ENSP00000379248.2:p.Asn262Tyr
ENST00000519317.5:c.304A>T	ENSP00000430641.1:p.Asn102Tyr
ENST00000519962.5:c.85A>T	ENSP00000429140.1:p.Asn29Tyr
ENST00000522368.5:c.1109A>T
ENST00000522394.1:c.273A>T	ENSP00000429578.1:n.273A>T
ENST00000621845.1:c.778A>T	ENSP00000484318.1:p.Asn260Tyr
NM_001172477.1:c.1156A>T , LRG_788t1:c.1156A>T	NP_001165948.1:p.Asn386Tyr
NM_001172478.1:c.784A>T	NP_001165949.1:p.Asn262Tyr
NM_015713.4:c.940A>T , LRG_788t2:c.940A>T	NP_056528.2:p.Asn314Tyr
NM_001172478.2:c.784A>T	NP_001165949.1:p.Asn262Tyr
NM_015713.5:c.940A>T MANE Select	NP_056528.2:p.Asn314Tyr