Canonical Allele Identifier: CA388259061

Gene: RNASEH2B

Linked Data

• dbSNP Id: rs201078944
• gnomAD v3: 13-50930752-A-T
• gnomAD v4: 13-50930752-A-T
• MyVariant Identifiers: chr13:g.51504888A>T (hg19) ; chr13:g.50930752A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50930752A>T , CM000675.2:g.50930752A>T	GRCh38
NC_000013.10:g.51504888A>T , CM000675.1:g.51504888A>T	GRCh37
NC_000013.9:g.50402889A>T	NCBI36
NG_009055.1:g.25997A>T , LRG_279:g.25997A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.314A>T MANE Select	ENSP00000337623.2:p.Asp105Val
ENST00000422660.6:c.314A>T	ENSP00000389877.1:p.Asp105Val
ENST00000459681.3:n.112A>T
ENST00000495244.7:n.325A>T
ENST00000611510.5:c.224A>T	ENSP00000481236.3:p.Asp75Val
ENST00000616907.2:c.314A>T	ENSP00000482701.2:p.Asp105Val
ENST00000637648.2:c.224A>T	ENSP00000490077.2:p.Asp75Val
ENST00000642207.1:c.168A>T
ENST00000642454.1:c.224A>T	ENSP00000494221.1:p.Asp75Val
ENST00000642721.1:c.314A>T	ENSP00000495650.1:p.Asp105Val
ENST00000642995.1:c.206A>T	ENSP00000493499.1:p.Asp69Val
ENST00000643159.1:c.224A>T	ENSP00000495587.1:p.Asp75Val
ENST00000643215.1:c.184A>T
ENST00000643462.1:c.*129A>T	ENSP00000496130.1:n.*129A>T
ENST00000643682.1:c.314A>T	ENSP00000493655.1:p.Asp105Val
ENST00000643774.1:c.278A>T	ENSP00000495482.1:p.Asp93Val
ENST00000644034.1:c.65-17235A>T	ENSP00000495456.1:n.65-17235A>T
ENST00000644183.1:c.211+1170A>T	ENSP00000495657.1:n.211+1170A>T
ENST00000644297.1:c.*181A>T	ENSP00000495519.1:n.*181A>T
ENST00000644420.1:n.340A>T
ENST00000644425.1:c.265A>T
ENST00000644518.1:c.*181A>T	ENSP00000495793.1:n.*181A>T
ENST00000645188.1:c.314A>T	ENSP00000496224.1:p.Asp105Val
ENST00000645333.1:n.246A>T
ENST00000645370.1:c.149A>T	ENSP00000494019.1:p.Asp50Val
ENST00000645549.1:n.578A>T
ENST00000645618.1:c.224A>T	ENSP00000495429.1:p.Asp75Val
ENST00000645712.1:n.347A>T
ENST00000645955.1:c.314A>T	ENSP00000495755.1:p.Asp105Val
ENST00000645990.1:c.314A>T	ENSP00000496571.1:p.Asp105Val
ENST00000646092.1:c.278A>T	ENSP00000496293.1:p.Asp93Val
ENST00000646279.1:n.611A>T
ENST00000646339.1:c.2A>T	ENSP00000495773.1:p.Asp1Val
ENST00000646709.1:c.224A>T	ENSP00000495278.1:p.Asp75Val
ENST00000646731.1:c.314A>T	ENSP00000493828.1:p.Asp105Val
ENST00000646960.1:c.314A>T	ENSP00000496481.1:p.Asp105Val
ENST00000647387.1:c.224A>T	ENSP00000495487.1:p.Asp75Val
ENST00000336617.7:c.314A>T	ENSP00000337623.2:p.Asp105Val
ENST00000422660.5:c.314A>T	ENSP00000389877.1:p.Asp105Val
ENST00000459681.2:n.112A>T
ENST00000495244.6:n.325A>T
ENST00000611510.4:c.314A>T	ENSP00000481236.2:p.Asp105Val
NM_001142279.2:c.314A>T , LRG_279t1:c.314A>T	NP_001135751.1:p.Asp105Val
NM_024570.3:c.314A>T , LRG_279t2:c.314A>T	NP_078846.2:p.Asp105Val
XM_005266524.2:c.314A>T	XP_005266581.1:p.Asp105Val
XM_005266525.2:c.314A>T	XP_005266582.1:p.Asp105Val
XM_006719867.2:c.296A>T	XP_006719930.1:p.Asp99Val
XM_011535229.1:c.314A>T	XP_011533531.1:p.Asp105Val
XM_011535230.1:c.314A>T	XP_011533532.1:p.Asp105Val
XM_011535231.1:c.314A>T	XP_011533533.1:p.Asp105Val
XM_011535232.1:c.152A>T	XP_011533534.1:p.Asp51Val
XM_011535233.1:c.-300A>T	XP_011533535.1:n.-300A>T
XM_011535234.1:c.314A>T	XP_011533536.1:p.Asp105Val
XM_006719867.4:c.296A>T	XP_006719930.1:p.Asp99Val
XM_011535230.2:c.314A>T	XP_011533532.1:p.Asp105Val
XM_011535231.2:c.314A>T	XP_011533533.1:p.Asp105Val
XM_011535233.2:c.-300A>T	XP_011533535.1:n.-300A>T
XM_017020747.1:c.314A>T	XP_016876236.1:p.Asp105Val
NM_024570.4:c.314A>T MANE Select	NP_078846.2:p.Asp105Val