Canonical Allele Identifier: CA583909884

Gene: RRM2B

Linked Data

• dbSNP Id: rs1293393994
• gnomAD v2: 8-103231220-C-A
• gnomAD v3: 8-102218992-C-A
• gnomAD v4: 8-102218992-C-A
• MyVariant Identifiers: chr8:g.103231220C>A (hg19) ; chr8:g.102218992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102218992C>A , CM000670.2:g.102218992C>A	GRCh38
NC_000008.10:g.103231220C>A , CM000670.1:g.103231220C>A	GRCh37
NC_000008.9:g.103300396C>A	NCBI36
NG_016617.1:g.25127G>T , LRG_788:g.25127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.551-45G>T MANE Select	ENSP00000251810.3:n.551-45G>T
ENST00000251810.7:c.551-45G>T	ENSP00000251810.3:n.551-45G>T
ENST00000395912.6:c.395-45G>T	ENSP00000379248.2:n.395-45G>T
ENST00000519125.1:n.24G>T
ENST00000519317.5:c.49-4834G>T	ENSP00000430641.1:n.49-4834G>T
ENST00000519962.5:c.49-10707G>T	ENSP00000429140.1:n.49-10707G>T
ENST00000522368.5:c.720-45G>T
ENST00000522394.1:c.123-6103G>T	ENSP00000429578.1:n.123-6103G>T
ENST00000621845.1:c.389-45G>T	ENSP00000484318.1:n.389-45G>T
NM_001172477.1:c.767-45G>T , LRG_788t1:c.767-45G>T	NP_001165948.1:n.767-45G>T
NM_001172478.1:c.395-45G>T	NP_001165949.1:n.395-45G>T
NM_015713.4:c.551-45G>T , LRG_788t2:c.551-45G>T	NP_056528.2:n.551-45G>T
NM_001172478.2:c.395-45G>T	NP_001165949.1:n.395-45G>T
NM_015713.5:c.551-45G>T MANE Select	NP_056528.2:n.551-45G>T