Canonical Allele Identifier: CA1806686225
Community Standard Title: NM_015713.5(RRM2B):c.118C= (p.Arg40=)
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102232235G= , CM000670.2:g.102232235G= GRCh38
NC_000008.10:g.103244463G= , CM000670.1:g.103244463G= GRCh37
NC_000008.9:g.103313639G= NCBI36
NG_016617.1:g.11884C= , LRG_788:g.11884C=

Transcript Alleles

HGVS Amino-acid Change
NM_015713.5:c.118C= MANE Select NP_056528.2:p.Arg40=
ENST00000251810.8:c.118C= MANE Select ENSP00000251810.3:p.Arg40=
NM_001172477.1:c.334C= , LRG_788t1:c.334C= NP_001165948.1:p.Arg112=
NM_001172478.1:c.49-6201C= NP_001165949.1:n.49-6201C=
NM_001172478.2:c.49-6201C= NP_001165949.1:n.49-6201C=
NM_015713.4:c.118C= , LRG_788t2:c.118C= NP_056528.2:p.Arg40=
ENST00000251810.7:c.118C= ENSP00000251810.3:p.Arg40=
ENST00000395912.6:c.49-6201C= ENSP00000379248.2:n.49-6201C=
ENST00000517517.1:n.427C=
ENST00000519317.5:c.48+6592C= ENSP00000430641.1:n.48+6592C=
ENST00000519962.5:c.48+6592C= ENSP00000429140.1:n.48+6592C=
ENST00000522368.5:c.287C=
ENST00000522394.1:c.118C= ENSP00000429578.1:p.Arg40=
ENST00000523957.1:c.*41C= ENSP00000427830.1:n.*41C=
ENST00000621845.1:c.-45C= ENSP00000484318.1:n.-45C=