Canonical Allele Identifier: CA483840963
Gene: RNASEH2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.51522176T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50948040T>C , CM000675.2:g.50948040T>C GRCh38
NC_000013.10:g.51522176T>C , CM000675.1:g.51522176T>C GRCh37
NC_000013.9:g.50420177T>C NCBI36
NG_009055.1:g.43285T>C , LRG_279:g.43285T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336617.8:c.670T>C MANE Select ENSP00000337623.2:p.Leu224=
ENST00000422660.6:c.670T>C ENSP00000389877.1:p.Leu224=
ENST00000459681.3:n.353T>C
ENST00000495244.7:n.681T>C
ENST00000611510.5:c.580T>C ENSP00000481236.3:p.Leu194=
ENST00000616907.2:c.670T>C ENSP00000482701.2:p.Leu224=
ENST00000642207.1:c.409T>C
ENST00000642454.1:c.580T>C ENSP00000494221.1:p.Leu194=
ENST00000642721.1:c.670T>C ENSP00000495650.1:p.Leu224=
ENST00000642995.1:c.553T>C ENSP00000493499.1:p.Leu185=
ENST00000643159.1:c.580T>C ENSP00000495587.1:p.Leu194=
ENST00000643215.1:c.540T>C
ENST00000643405.1:c.318T>C
ENST00000643529.1:c.183T>C
ENST00000643682.1:c.670T>C ENSP00000493655.1:p.Leu224=
ENST00000643774.1:c.634T>C ENSP00000495482.1:p.Leu212=
ENST00000644034.1:c.118T>C ENSP00000495456.1:p.Leu40=
ENST00000644183.1:c.560T>C ENSP00000495657.1:n.560T>C
ENST00000644297.1:c.*528T>C ENSP00000495519.1:n.*528T>C
ENST00000644420.1:n.696T>C
ENST00000644425.1:c.621T>C
ENST00000644518.1:c.*537T>C ENSP00000495793.1:n.*537T>C
ENST00000645188.1:c.661T>C ENSP00000496224.1:p.Leu221=
ENST00000645201.1:n.67T>C
ENST00000645333.1:n.602T>C
ENST00000645370.1:c.505T>C ENSP00000494019.1:p.Leu169=
ENST00000645618.1:c.580T>C ENSP00000495429.1:p.Leu194=
ENST00000645712.1:n.694T>C
ENST00000645912.1:c.8T>C
ENST00000645955.1:c.670T>C ENSP00000495755.1:p.Leu224=
ENST00000645990.1:c.670T>C ENSP00000496571.1:p.Leu224=
ENST00000646092.1:c.634T>C ENSP00000496293.1:p.Leu212=
ENST00000646279.1:n.967T>C
ENST00000646339.1:c.332T>C ENSP00000495773.1:n.332T>C
ENST00000646709.1:c.580T>C ENSP00000495278.1:p.Leu194=
ENST00000646731.1:c.661T>C ENSP00000493828.1:p.Leu221=
ENST00000646960.1:c.670T>C ENSP00000496481.1:p.Leu224=
ENST00000646964.1:n.1309T>C
ENST00000647387.1:c.580T>C ENSP00000495487.1:p.Leu194=
ENST00000336617.7:c.670T>C ENSP00000337623.2:p.Leu224=
ENST00000422660.5:c.670T>C ENSP00000389877.1:p.Leu224=
ENST00000495244.6:n.681T>C
ENST00000611510.4:c.670T>C ENSP00000481236.2:p.Leu224=
ENST00000613449.4:n.2732T>C
ENST00000616907.1:c.53T>C
ENST00000621641.1:n.258T>C
NM_001142279.2:c.670T>C , LRG_279t1:c.670T>C NP_001135751.1:p.Leu224=
NM_024570.3:c.670T>C , LRG_279t2:c.670T>C NP_078846.2:p.Leu224=
XM_005266524.2:c.670T>C XP_005266581.1:p.Leu224=
XM_005266525.2:c.670T>C XP_005266582.1:p.Leu224=
XM_006719867.2:c.652T>C XP_006719930.1:p.Leu218=
XM_011535229.1:c.670T>C XP_011533531.1:p.Leu224=
XM_011535230.1:c.670T>C XP_011533532.1:p.Leu224=
XM_011535231.1:c.670T>C XP_011533533.1:p.Leu224=
XM_011535232.1:c.508T>C XP_011533534.1:p.Leu170=
XM_011535233.1:c.262T>C XP_011533535.1:p.Leu88=
XM_006719867.4:c.652T>C XP_006719930.1:p.Leu218=
XM_011535230.2:c.670T>C XP_011533532.1:p.Leu224=
XM_011535231.2:c.670T>C XP_011533533.1:p.Leu224=
XM_011535233.2:c.262T>C XP_011533535.1:p.Leu88=
XM_017020747.1:c.670T>C XP_016876236.1:p.Leu224=
NM_024570.4:c.670T>C MANE Select NP_078846.2:p.Leu224=