Canonical Allele Identifier: CA371585231

Gene: RRM2B

Linked Data

• gnomAD v4: 8-102208152-G-A
• MyVariant Identifiers: chr8:g.103220380G>A (hg19) ; chr8:g.102208152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102208152G>A , CM000670.2:g.102208152G>A	GRCh38
NC_000008.10:g.103220380G>A , CM000670.1:g.103220380G>A	GRCh37
NC_000008.9:g.103289556G>A	NCBI36
NG_016617.1:g.35967C>T , LRG_788:g.35967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.1037C>T MANE Select	ENSP00000251810.3:p.Thr346Ile
ENST00000251810.7:c.1037C>T	ENSP00000251810.3:p.Thr346Ile
ENST00000395910.6:n.424C>T
ENST00000395912.6:c.881C>T	ENSP00000379248.2:p.Thr294Ile
ENST00000519317.5:c.401C>T	ENSP00000430641.1:p.Thr134Ile
ENST00000519962.5:c.182C>T	ENSP00000429140.1:p.Thr61Ile
ENST00000522368.5:c.1206C>T
ENST00000522394.1:c.370C>T	ENSP00000429578.1:n.370C>T
ENST00000621845.1:c.875C>T	ENSP00000484318.1:p.Thr292Ile
NM_001172477.1:c.1253C>T , LRG_788t1:c.1253C>T	NP_001165948.1:p.Thr418Ile
NM_001172478.1:c.881C>T	NP_001165949.1:p.Thr294Ile
NM_015713.4:c.1037C>T , LRG_788t2:c.1037C>T	NP_056528.2:p.Thr346Ile
NM_001172478.2:c.881C>T	NP_001165949.1:p.Thr294Ile
NM_015713.5:c.1037C>T MANE Select	NP_056528.2:p.Thr346Ile