Canonical Allele Identifier: CA2688143382
Gene: RRM2B HGNC NCBI

Linked Data

gnomAD v4: 8-102208005-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102208009del , CM000670.2:g.102208009del GRCh38
NC_000008.10:g.103220237del , CM000670.1:g.103220237del GRCh37
NC_000008.9:g.103289413del NCBI36
NG_016617.1:g.36113del , LRG_788:g.36113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.*127del MANE Select ENSP00000251810.3:n.*127del
ENST00000251810.7:c.*127del ENSP00000251810.3:n.*127del
ENST00000395910.6:n.570del
ENST00000522368.5:c.1352del
ENST00000621845.1:c.*127del ENSP00000484318.1:n.*127del
NM_001172477.1:c.*127del , LRG_788t1:c.*127del NP_001165948.1:n.*127del
NM_001172478.1:c.*127del NP_001165949.1:n.*127del
NM_015713.4:c.*127del , LRG_788t2:c.*127del NP_056528.2:n.*127del
NM_001172478.2:c.*127del NP_001165949.1:n.*127del
NM_015713.5:c.*127del MANE Select NP_056528.2:n.*127del
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