Canonical Allele Identifier: CA182479485

Gene: RRM2B

Linked Data

• dbSNP Id: rs796990023
• gnomAD v3: 8-102232087-G-A
• gnomAD v4: 8-102232087-G-A
• MyVariant Identifiers: chr8:g.103244315G>A (hg19) ; chr8:g.102232087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102232087G>A , CM000670.2:g.102232087G>A	GRCh38
NC_000008.10:g.103244315G>A , CM000670.1:g.103244315G>A	GRCh37
NC_000008.9:g.103313491G>A	NCBI36
NG_016617.1:g.12032C>T , LRG_788:g.12032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.204+62C>T MANE Select	ENSP00000251810.3:n.204+62C>T
ENST00000251810.7:c.204+62C>T	ENSP00000251810.3:n.204+62C>T
ENST00000395912.6:c.49-6053C>T	ENSP00000379248.2:n.49-6053C>T
ENST00000517517.1:n.513+62C>T
ENST00000519317.5:c.48+6740C>T	ENSP00000430641.1:n.48+6740C>T
ENST00000519962.5:c.48+6740C>T	ENSP00000429140.1:n.48+6740C>T
ENST00000522368.5:c.373+62C>T
ENST00000522394.1:c.122+144C>T	ENSP00000429578.1:n.122+144C>T
ENST00000523957.1:c.*127+62C>T	ENSP00000427830.1:n.*127+62C>T
ENST00000621845.1:c.42+62C>T	ENSP00000484318.1:n.42+62C>T
NM_001172477.1:c.420+62C>T , LRG_788t1:c.420+62C>T	NP_001165948.1:n.420+62C>T
NM_001172478.1:c.49-6053C>T	NP_001165949.1:n.49-6053C>T
NM_015713.4:c.204+62C>T , LRG_788t2:c.204+62C>T	NP_056528.2:n.204+62C>T
NM_001172478.2:c.49-6053C>T	NP_001165949.1:n.49-6053C>T
NM_015713.5:c.204+62C>T MANE Select	NP_056528.2:n.204+62C>T