Canonical Allele Identifier: CA10629740

Gene: RRM2B

Linked Data

• ClinVar Variation Id: 361134
• ClinVar RCV Id: RCV000346474 ; RCV000391919
• dbSNP Id: rs552260099
• gnomAD v2: 8-103217356-AAT-A
• gnomAD v3: 8-102205128-AAT-A
• gnomAD v4: 8-102205128-AAT-A
• MyVariant Identifiers: chr8:g.103217357_103217358del (hg19) ; chr8:g.102205129_102205130del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.102205130_102205131del , CM000670.2:g.102205130_102205131del	GRCh38
NC_000008.10:g.103217358_103217359del , CM000670.1:g.103217358_103217359del	GRCh37
NC_000008.9:g.103286534_103286535del	NCBI36
NG_016617.1:g.38989_38990del , LRG_788:g.38989_38990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251810.8:c.*3003_*3004del MANE Select	ENSP00000251810.3:n.*3003_*3004del
ENST00000251810.7:c.*3003_*3004del	ENSP00000251810.3:n.*3003_*3004del
NM_001172477.1:c.*3003_*3004del , LRG_788t1:c.*3003_*3004del	NP_001165948.1:n.*3003_*3004del
NM_001172478.1:c.*3003_*3004del	NP_001165949.1:n.*3003_*3004del
NM_015713.4:c.*3003_*3004del , LRG_788t2:c.*3003_*3004del	NP_056528.2:n.*3003_*3004del
NM_001172478.2:c.*3003_*3004del	NP_001165949.1:n.*3003_*3004del
NM_015713.5:c.*3003_*3004del MANE Select	NP_056528.2:n.*3003_*3004del