Canonical Allele Identifier: CA388259864

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50948032-C-G
• MyVariant Identifiers: chr13:g.51522168C>G (hg19) ; chr13:g.50948032C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50948032C>G , CM000675.2:g.50948032C>G	GRCh38
NC_000013.10:g.51522168C>G , CM000675.1:g.51522168C>G	GRCh37
NC_000013.9:g.50420169C>G	NCBI36
NG_009055.1:g.43277C>G , LRG_279:g.43277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.662C>G MANE Select	ENSP00000337623.2:p.Pro221Arg
ENST00000422660.6:c.662C>G	ENSP00000389877.1:p.Pro221Arg
ENST00000459681.3:n.345C>G
ENST00000495244.7:n.673C>G
ENST00000611510.5:c.572C>G	ENSP00000481236.3:p.Pro191Arg
ENST00000616907.2:c.662C>G	ENSP00000482701.2:p.Pro221Arg
ENST00000642207.1:c.401C>G
ENST00000642454.1:c.572C>G	ENSP00000494221.1:p.Pro191Arg
ENST00000642721.1:c.662C>G	ENSP00000495650.1:p.Pro221Arg
ENST00000642995.1:c.545C>G	ENSP00000493499.1:p.Pro182Arg
ENST00000643159.1:c.572C>G	ENSP00000495587.1:p.Pro191Arg
ENST00000643215.1:c.532C>G
ENST00000643405.1:c.310C>G
ENST00000643529.1:c.175C>G
ENST00000643682.1:c.662C>G	ENSP00000493655.1:p.Pro221Arg
ENST00000643774.1:c.626C>G	ENSP00000495482.1:p.Pro209Arg
ENST00000644034.1:c.110C>G	ENSP00000495456.1:p.Pro37Arg
ENST00000644183.1:c.552C>G	ENSP00000495657.1:n.552C>G
ENST00000644297.1:c.*520C>G	ENSP00000495519.1:n.*520C>G
ENST00000644420.1:n.688C>G
ENST00000644425.1:c.613C>G
ENST00000644518.1:c.*529C>G	ENSP00000495793.1:n.*529C>G
ENST00000645188.1:c.653C>G	ENSP00000496224.1:p.Pro218Arg
ENST00000645201.1:n.59C>G
ENST00000645333.1:n.594C>G
ENST00000645370.1:c.497C>G	ENSP00000494019.1:p.Pro166Arg
ENST00000645618.1:c.572C>G	ENSP00000495429.1:p.Pro191Arg
ENST00000645712.1:n.686C>G
ENST00000645955.1:c.662C>G	ENSP00000495755.1:p.Pro221Arg
ENST00000645990.1:c.662C>G	ENSP00000496571.1:p.Pro221Arg
ENST00000646092.1:c.626C>G	ENSP00000496293.1:p.Pro209Arg
ENST00000646279.1:n.959C>G
ENST00000646339.1:c.324C>G	ENSP00000495773.1:n.324C>G
ENST00000646709.1:c.572C>G	ENSP00000495278.1:p.Pro191Arg
ENST00000646731.1:c.653C>G	ENSP00000493828.1:p.Pro218Arg
ENST00000646960.1:c.662C>G	ENSP00000496481.1:p.Pro221Arg
ENST00000646964.1:n.1301C>G
ENST00000647387.1:c.572C>G	ENSP00000495487.1:p.Pro191Arg
ENST00000336617.7:c.662C>G	ENSP00000337623.2:p.Pro221Arg
ENST00000422660.5:c.662C>G	ENSP00000389877.1:p.Pro221Arg
ENST00000495244.6:n.673C>G
ENST00000611510.4:c.662C>G	ENSP00000481236.2:p.Pro221Arg
ENST00000613449.4:n.2724C>G
ENST00000616907.1:c.45C>G
ENST00000621641.1:n.250C>G
NM_001142279.2:c.662C>G , LRG_279t1:c.662C>G	NP_001135751.1:p.Pro221Arg
NM_024570.3:c.662C>G , LRG_279t2:c.662C>G	NP_078846.2:p.Pro221Arg
XM_005266524.2:c.662C>G	XP_005266581.1:p.Pro221Arg
XM_005266525.2:c.662C>G	XP_005266582.1:p.Pro221Arg
XM_006719867.2:c.644C>G	XP_006719930.1:p.Pro215Arg
XM_011535229.1:c.662C>G	XP_011533531.1:p.Pro221Arg
XM_011535230.1:c.662C>G	XP_011533532.1:p.Pro221Arg
XM_011535231.1:c.662C>G	XP_011533533.1:p.Pro221Arg
XM_011535232.1:c.500C>G	XP_011533534.1:p.Pro167Arg
XM_011535233.1:c.254C>G	XP_011533535.1:p.Pro85Arg
XM_006719867.4:c.644C>G	XP_006719930.1:p.Pro215Arg
XM_011535230.2:c.662C>G	XP_011533532.1:p.Pro221Arg
XM_011535231.2:c.662C>G	XP_011533533.1:p.Pro221Arg
XM_011535233.2:c.254C>G	XP_011533535.1:p.Pro85Arg
XM_017020747.1:c.662C>G	XP_016876236.1:p.Pro221Arg
NM_024570.4:c.662C>G MANE Select	NP_078846.2:p.Pro221Arg