Canonical Allele Identifier: CA483840968

Gene: RNASEH2B

Linked Data

• MyVariant Identifiers: chr13:g.51522188T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50948052T>C , CM000675.2:g.50948052T>C	GRCh38
NC_000013.10:g.51522188T>C , CM000675.1:g.51522188T>C	GRCh37
NC_000013.9:g.50420189T>C	NCBI36
NG_009055.1:g.43297T>C , LRG_279:g.43297T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.682T>C MANE Select	ENSP00000337623.2:p.Leu228=
ENST00000422660.6:c.682T>C	ENSP00000389877.1:p.Leu228=
ENST00000459681.3:n.365T>C
ENST00000495244.7:n.693T>C
ENST00000611510.5:c.592T>C	ENSP00000481236.3:p.Leu198=
ENST00000616907.2:c.682T>C	ENSP00000482701.2:p.Leu228=
ENST00000642207.1:c.421T>C
ENST00000642454.1:c.592T>C	ENSP00000494221.1:p.Leu198=
ENST00000642721.1:c.682T>C	ENSP00000495650.1:p.Leu228=
ENST00000642995.1:c.565T>C	ENSP00000493499.1:p.Leu189=
ENST00000643159.1:c.592T>C	ENSP00000495587.1:p.Leu198=
ENST00000643215.1:c.552T>C
ENST00000643405.1:c.330T>C
ENST00000643529.1:c.195T>C
ENST00000643682.1:c.682T>C	ENSP00000493655.1:p.Leu228=
ENST00000643774.1:c.646T>C	ENSP00000495482.1:p.Leu216=
ENST00000644034.1:c.130T>C	ENSP00000495456.1:p.Leu44=
ENST00000644183.1:c.572T>C	ENSP00000495657.1:n.572T>C
ENST00000644297.1:c.*540T>C	ENSP00000495519.1:n.*540T>C
ENST00000644420.1:n.708T>C
ENST00000644425.1:c.633T>C
ENST00000644518.1:c.*549T>C	ENSP00000495793.1:n.*549T>C
ENST00000645188.1:c.673T>C	ENSP00000496224.1:p.Leu225=
ENST00000645201.1:n.79T>C
ENST00000645333.1:n.614T>C
ENST00000645370.1:c.517T>C	ENSP00000494019.1:p.Leu173=
ENST00000645618.1:c.592T>C	ENSP00000495429.1:p.Leu198=
ENST00000645712.1:n.706T>C
ENST00000645912.1:c.20T>C
ENST00000645955.1:c.682T>C	ENSP00000495755.1:p.Leu228=
ENST00000645990.1:c.682T>C	ENSP00000496571.1:p.Leu228=
ENST00000646092.1:c.646T>C	ENSP00000496293.1:p.Leu216=
ENST00000646279.1:n.979T>C
ENST00000646339.1:c.344T>C	ENSP00000495773.1:n.344T>C
ENST00000646709.1:c.592T>C	ENSP00000495278.1:p.Leu198=
ENST00000646731.1:c.673T>C	ENSP00000493828.1:p.Leu225=
ENST00000646960.1:c.682T>C	ENSP00000496481.1:p.Leu228=
ENST00000646964.1:n.1321T>C
ENST00000647387.1:c.592T>C	ENSP00000495487.1:p.Leu198=
ENST00000336617.7:c.682T>C	ENSP00000337623.2:p.Leu228=
ENST00000422660.5:c.682T>C	ENSP00000389877.1:p.Leu228=
ENST00000495244.6:n.693T>C
ENST00000611510.4:c.682T>C	ENSP00000481236.2:p.Leu228=
ENST00000613449.4:n.2744T>C
ENST00000616907.1:c.65T>C
ENST00000621641.1:n.270T>C
NM_001142279.2:c.682T>C , LRG_279t1:c.682T>C	NP_001135751.1:p.Leu228=
NM_024570.3:c.682T>C , LRG_279t2:c.682T>C	NP_078846.2:p.Leu228=
XM_005266524.2:c.682T>C	XP_005266581.1:p.Leu228=
XM_005266525.2:c.682T>C	XP_005266582.1:p.Leu228=
XM_006719867.2:c.664T>C	XP_006719930.1:p.Leu222=
XM_011535229.1:c.682T>C	XP_011533531.1:p.Leu228=
XM_011535230.1:c.682T>C	XP_011533532.1:p.Leu228=
XM_011535231.1:c.682T>C	XP_011533533.1:p.Leu228=
XM_011535232.1:c.520T>C	XP_011533534.1:p.Leu174=
XM_011535233.1:c.274T>C	XP_011533535.1:p.Leu92=
XM_006719867.4:c.664T>C	XP_006719930.1:p.Leu222=
XM_011535230.2:c.682T>C	XP_011533532.1:p.Leu228=
XM_011535231.2:c.682T>C	XP_011533533.1:p.Leu228=
XM_011535233.2:c.274T>C	XP_011533535.1:p.Leu92=
XM_017020747.1:c.682T>C	XP_016876236.1:p.Leu228=
NM_024570.4:c.682T>C MANE Select	NP_078846.2:p.Leu228=