Canonical Allele Identifier: CA182471808

Gene: RRM2B

Linked Data

• dbSNP Id: rs72554100
• gnomAD v4: 8-102218965-G-T
• MyVariant Identifiers: chr8:g.103231193G>T (hg19) ; chr8:g.102218965G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102218965G>T , CM000670.2:g.102218965G>T	GRCh38
NC_000008.10:g.103231193G>T , CM000670.1:g.103231193G>T	GRCh37
NC_000008.9:g.103300369G>T	NCBI36
NG_016617.1:g.25154C>A , LRG_788:g.25154C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.551-18C>A MANE Select	ENSP00000251810.3:n.551-18C>A
ENST00000251810.7:c.551-18C>A	ENSP00000251810.3:n.551-18C>A
ENST00000395912.6:c.395-18C>A	ENSP00000379248.2:n.395-18C>A
ENST00000519125.1:n.51C>A
ENST00000519317.5:c.49-4807C>A	ENSP00000430641.1:n.49-4807C>A
ENST00000519962.5:c.49-10680C>A	ENSP00000429140.1:n.49-10680C>A
ENST00000522368.5:c.720-18C>A
ENST00000522394.1:c.123-6076C>A	ENSP00000429578.1:n.123-6076C>A
ENST00000621845.1:c.389-18C>A	ENSP00000484318.1:n.389-18C>A
NM_001172477.1:c.767-18C>A , LRG_788t1:c.767-18C>A	NP_001165948.1:n.767-18C>A
NM_001172478.1:c.395-18C>A	NP_001165949.1:n.395-18C>A
NM_015713.4:c.551-18C>A , LRG_788t2:c.551-18C>A	NP_056528.2:n.551-18C>A
NM_001172478.2:c.395-18C>A	NP_001165949.1:n.395-18C>A
NM_015713.5:c.551-18C>A MANE Select	NP_056528.2:n.551-18C>A