Canonical Allele Identifier: CA388259812

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50948005-C-G
• MyVariant Identifiers: chr13:g.51522141C>G (hg19) ; chr13:g.50948005C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50948005C>G , CM000675.2:g.50948005C>G	GRCh38
NC_000013.10:g.51522141C>G , CM000675.1:g.51522141C>G	GRCh37
NC_000013.9:g.50420142C>G	NCBI36
NG_009055.1:g.43250C>G , LRG_279:g.43250C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.635C>G MANE Select	ENSP00000337623.2:p.Ala212Gly
ENST00000422660.6:c.635C>G	ENSP00000389877.1:p.Ala212Gly
ENST00000459681.3:n.318C>G
ENST00000495244.7:n.646C>G
ENST00000611510.5:c.545C>G	ENSP00000481236.3:p.Ala182Gly
ENST00000616907.2:c.635C>G	ENSP00000482701.2:p.Ala212Gly
ENST00000642207.1:c.374C>G
ENST00000642454.1:c.545C>G	ENSP00000494221.1:p.Ala182Gly
ENST00000642721.1:c.635C>G	ENSP00000495650.1:p.Ala212Gly
ENST00000642995.1:c.518C>G	ENSP00000493499.1:p.Ala173Gly
ENST00000643159.1:c.545C>G	ENSP00000495587.1:p.Ala182Gly
ENST00000643215.1:c.505C>G
ENST00000643405.1:c.283C>G
ENST00000643529.1:c.148C>G
ENST00000643682.1:c.635C>G	ENSP00000493655.1:p.Ala212Gly
ENST00000643774.1:c.599C>G	ENSP00000495482.1:p.Ala200Gly
ENST00000644034.1:c.83C>G	ENSP00000495456.1:p.Ala28Gly
ENST00000644183.1:c.525C>G	ENSP00000495657.1:n.525C>G
ENST00000644297.1:c.*493C>G	ENSP00000495519.1:n.*493C>G
ENST00000644420.1:n.661C>G
ENST00000644425.1:c.586C>G
ENST00000644518.1:c.*502C>G	ENSP00000495793.1:n.*502C>G
ENST00000645188.1:c.626C>G	ENSP00000496224.1:p.Ala209Gly
ENST00000645201.1:n.32C>G
ENST00000645333.1:n.567C>G
ENST00000645370.1:c.470C>G	ENSP00000494019.1:p.Ala157Gly
ENST00000645618.1:c.545C>G	ENSP00000495429.1:p.Ala182Gly
ENST00000645712.1:n.659C>G
ENST00000645955.1:c.635C>G	ENSP00000495755.1:p.Ala212Gly
ENST00000645990.1:c.635C>G	ENSP00000496571.1:p.Ala212Gly
ENST00000646092.1:c.599C>G	ENSP00000496293.1:p.Ala200Gly
ENST00000646279.1:n.932C>G
ENST00000646339.1:c.297C>G	ENSP00000495773.1:n.297C>G
ENST00000646709.1:c.545C>G	ENSP00000495278.1:p.Ala182Gly
ENST00000646731.1:c.626C>G	ENSP00000493828.1:p.Ala209Gly
ENST00000646960.1:c.635C>G	ENSP00000496481.1:p.Ala212Gly
ENST00000646964.1:n.1274C>G
ENST00000647387.1:c.545C>G	ENSP00000495487.1:p.Ala182Gly
ENST00000336617.7:c.635C>G	ENSP00000337623.2:p.Ala212Gly
ENST00000422660.5:c.635C>G	ENSP00000389877.1:p.Ala212Gly
ENST00000495244.6:n.646C>G
ENST00000611510.4:c.635C>G	ENSP00000481236.2:p.Ala212Gly
ENST00000613449.4:n.2697C>G
ENST00000616907.1:c.18C>G
ENST00000621641.1:n.223C>G
NM_001142279.2:c.635C>G , LRG_279t1:c.635C>G	NP_001135751.1:p.Ala212Gly
NM_024570.3:c.635C>G , LRG_279t2:c.635C>G	NP_078846.2:p.Ala212Gly
XM_005266524.2:c.635C>G	XP_005266581.1:p.Ala212Gly
XM_005266525.2:c.635C>G	XP_005266582.1:p.Ala212Gly
XM_006719867.2:c.617C>G	XP_006719930.1:p.Ala206Gly
XM_011535229.1:c.635C>G	XP_011533531.1:p.Ala212Gly
XM_011535230.1:c.635C>G	XP_011533532.1:p.Ala212Gly
XM_011535231.1:c.635C>G	XP_011533533.1:p.Ala212Gly
XM_011535232.1:c.473C>G	XP_011533534.1:p.Ala158Gly
XM_011535233.1:c.227C>G	XP_011533535.1:p.Ala76Gly
XM_006719867.4:c.617C>G	XP_006719930.1:p.Ala206Gly
XM_011535230.2:c.635C>G	XP_011533532.1:p.Ala212Gly
XM_011535231.2:c.635C>G	XP_011533533.1:p.Ala212Gly
XM_011535233.2:c.227C>G	XP_011533535.1:p.Ala76Gly
XM_017020747.1:c.635C>G	XP_016876236.1:p.Ala212Gly
NM_024570.4:c.635C>G MANE Select	NP_078846.2:p.Ala212Gly