Canonical Allele Identifier: CA235894

Gene: RNASEH2B

Linked Data

• ClinVar Variation Id: 191042
• ClinVar RCV Id: RCV000171218 ; RCV000492016 ; RCV003987401
• dbSNP Id: rs786205483
• MyVariant Identifiers: chr13:g.51509055A>G (hg19) ; chr13:g.50934919A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50934919A>G , CM000675.2:g.50934919A>G	GRCh38
NC_000013.10:g.51509055A>G , CM000675.1:g.51509055A>G	GRCh37
NC_000013.9:g.50407056A>G	NCBI36
NG_009055.1:g.30164A>G , LRG_279:g.30164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.356A>G MANE Select	ENSP00000337623.2:p.Asp119Gly
ENST00000422660.6:c.356A>G	ENSP00000389877.1:p.Asp119Gly
ENST00000459681.3:n.119+4160A>G
ENST00000495244.7:n.367A>G
ENST00000611510.5:c.266A>G	ENSP00000481236.3:p.Asp89Gly
ENST00000616907.2:c.356A>G	ENSP00000482701.2:p.Asp119Gly
ENST00000637648.2:c.266A>G	ENSP00000490077.2:p.Asp89Gly
ENST00000642207.1:c.175+4160A>G
ENST00000642454.1:c.266A>G	ENSP00000494221.1:p.Asp89Gly
ENST00000642721.1:c.356A>G	ENSP00000495650.1:p.Asp119Gly
ENST00000642995.1:c.248A>G	ENSP00000493499.1:p.Asp83Gly
ENST00000643159.1:c.266A>G	ENSP00000495587.1:p.Asp89Gly
ENST00000643215.1:c.226A>G
ENST00000643405.1:c.4A>G
ENST00000643462.1:c.*171A>G	ENSP00000496130.1:n.*171A>G
ENST00000643682.1:c.356A>G	ENSP00000493655.1:p.Asp119Gly
ENST00000643774.1:c.320A>G	ENSP00000495482.1:p.Asp107Gly
ENST00000644034.1:c.65-13068A>G	ENSP00000495456.1:n.65-13068A>G
ENST00000644183.1:c.246A>G	ENSP00000495657.1:n.246A>G
ENST00000644297.1:c.*223A>G	ENSP00000495519.1:n.*223A>G
ENST00000644420.1:n.382A>G
ENST00000644425.1:c.307A>G
ENST00000644518.1:c.*223A>G	ENSP00000495793.1:n.*223A>G
ENST00000645188.1:c.356A>G	ENSP00000496224.1:p.Asp119Gly
ENST00000645333.1:n.288A>G
ENST00000645370.1:c.191A>G	ENSP00000494019.1:p.Asp64Gly
ENST00000645549.1:n.620A>G
ENST00000645618.1:c.266A>G	ENSP00000495429.1:p.Asp89Gly
ENST00000645712.1:n.389A>G
ENST00000645955.1:c.356A>G	ENSP00000495755.1:p.Asp119Gly
ENST00000645990.1:c.356A>G	ENSP00000496571.1:p.Asp119Gly
ENST00000646092.1:c.320A>G	ENSP00000496293.1:p.Asp107Gly
ENST00000646279.1:n.653A>G
ENST00000646339.1:c.98+4071A>G	ENSP00000495773.1:n.98+4071A>G
ENST00000646709.1:c.266A>G	ENSP00000495278.1:p.Asp89Gly
ENST00000646731.1:c.356A>G	ENSP00000493828.1:p.Asp119Gly
ENST00000646960.1:c.356A>G	ENSP00000496481.1:p.Asp119Gly
ENST00000646964.1:n.995A>G
ENST00000647387.1:c.266A>G	ENSP00000495487.1:p.Asp89Gly
ENST00000336617.7:c.356A>G	ENSP00000337623.2:p.Asp119Gly
ENST00000422660.5:c.356A>G	ENSP00000389877.1:p.Asp119Gly
ENST00000495244.6:n.367A>G
ENST00000611510.4:c.356A>G	ENSP00000481236.2:p.Asp119Gly
NM_001142279.2:c.356A>G , LRG_279t1:c.356A>G	NP_001135751.1:p.Asp119Gly
NM_024570.3:c.356A>G , LRG_279t2:c.356A>G	NP_078846.2:p.Asp119Gly
XM_005266524.2:c.356A>G	XP_005266581.1:p.Asp119Gly
XM_005266525.2:c.356A>G	XP_005266582.1:p.Asp119Gly
XM_006719867.2:c.338A>G	XP_006719930.1:p.Asp113Gly
XM_011535229.1:c.356A>G	XP_011533531.1:p.Asp119Gly
XM_011535230.1:c.356A>G	XP_011533532.1:p.Asp119Gly
XM_011535231.1:c.356A>G	XP_011533533.1:p.Asp119Gly
XM_011535232.1:c.194A>G	XP_011533534.1:p.Asp65Gly
XM_011535233.1:c.-258A>G	XP_011533535.1:n.-258A>G
XM_011535234.1:c.356A>G	XP_011533536.1:p.Asp119Gly
XM_006719867.4:c.338A>G	XP_006719930.1:p.Asp113Gly
XM_011535230.2:c.356A>G	XP_011533532.1:p.Asp119Gly
XM_011535231.2:c.356A>G	XP_011533533.1:p.Asp119Gly
XM_011535233.2:c.-258A>G	XP_011533535.1:n.-258A>G
XM_017020747.1:c.356A>G	XP_016876236.1:p.Asp119Gly
NM_024570.4:c.356A>G MANE Select	NP_078846.2:p.Asp119Gly