Canonical Allele Identifier: CA182463958

Gene: RRM2B

Linked Data

• dbSNP Id: rs187775470
• gnomAD v2: 8-103220222-G-A
• gnomAD v3: 8-102207994-G-A
• gnomAD v4: 8-102207994-G-A
• MyVariant Identifiers: chr8:g.103220222G>A (hg19) ; chr8:g.102207994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102207994G>A , CM000670.2:g.102207994G>A	GRCh38
NC_000008.10:g.103220222G>A , CM000670.1:g.103220222G>A	GRCh37
NC_000008.9:g.103289398G>A	NCBI36
NG_016617.1:g.36125C>T , LRG_788:g.36125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.*139C>T MANE Select	ENSP00000251810.3:n.*139C>T
ENST00000251810.7:c.*139C>T	ENSP00000251810.3:n.*139C>T
ENST00000395910.6:n.582C>T
ENST00000522368.5:c.1364C>T
ENST00000621845.1:c.*139C>T	ENSP00000484318.1:n.*139C>T
NM_001172477.1:c.*139C>T , LRG_788t1:c.*139C>T	NP_001165948.1:n.*139C>T
NM_001172478.1:c.*139C>T	NP_001165949.1:n.*139C>T
NM_015713.4:c.*139C>T , LRG_788t2:c.*139C>T	NP_056528.2:n.*139C>T
NM_001172478.2:c.*139C>T	NP_001165949.1:n.*139C>T
NM_015713.5:c.*139C>T MANE Select	NP_056528.2:n.*139C>T