Canonical Allele Identifier: CA2688143446
Gene: RRM2B HGNC NCBI

Linked Data

gnomAD v4: 8-102208130-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102208130T>G , CM000670.2:g.102208130T>G GRCh38
NC_000008.10:g.103220358T>G , CM000670.1:g.103220358T>G GRCh37
NC_000008.9:g.103289534T>G NCBI36
NG_016617.1:g.35989A>C , LRG_788:g.35989A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251810.8:c.*3A>C MANE Select ENSP00000251810.3:n.*3A>C
ENST00000251810.7:c.*3A>C ENSP00000251810.3:n.*3A>C
ENST00000395910.6:n.446A>C
ENST00000522368.5:c.1228A>C
ENST00000621845.1:c.*3A>C ENSP00000484318.1:n.*3A>C
NM_001172477.1:c.*3A>C , LRG_788t1:c.*3A>C NP_001165948.1:n.*3A>C
NM_001172478.1:c.*3A>C NP_001165949.1:n.*3A>C
NM_015713.4:c.*3A>C , LRG_788t2:c.*3A>C NP_056528.2:n.*3A>C
NM_001172478.2:c.*3A>C NP_001165949.1:n.*3A>C
NM_015713.5:c.*3A>C MANE Select NP_056528.2:n.*3A>C
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