Canonical Allele Identifier: CA388258876

Gene: RNASEH2B

Linked Data

• dbSNP Id: rs1268346095
• gnomAD v4: 13-50929567-C-T
• MyVariant Identifiers: chr13:g.51503703C>T (hg19) ; chr13:g.50929567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50929567C>T , CM000675.2:g.50929567C>T	GRCh38
NC_000013.10:g.51503703C>T , CM000675.1:g.51503703C>T	GRCh37
NC_000013.9:g.50401704C>T	NCBI36
NG_009055.1:g.24812C>T , LRG_279:g.24812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.229C>T MANE Select	ENSP00000337623.2:p.Gln77Ter
ENST00000422660.6:c.229C>T	ENSP00000389877.1:p.Gln77Ter
ENST00000495244.7:n.240C>T
ENST00000611510.5:c.139C>T	ENSP00000481236.3:p.Gln47Ter
ENST00000616907.2:c.229C>T	ENSP00000482701.2:p.Gln77Ter
ENST00000637648.2:c.139C>T	ENSP00000490077.2:p.Gln47Ter
ENST00000642207.1:c.83C>T
ENST00000642454.1:c.139C>T	ENSP00000494221.1:p.Gln47Ter
ENST00000642721.1:c.229C>T	ENSP00000495650.1:p.Gln77Ter
ENST00000642995.1:c.137-1116C>T	ENSP00000493499.1:n.137-1116C>T
ENST00000643159.1:c.139C>T	ENSP00000495587.1:p.Gln47Ter
ENST00000643215.1:c.99C>T
ENST00000643462.1:c.*44C>T	ENSP00000496130.1:n.*44C>T
ENST00000643682.1:c.229C>T	ENSP00000493655.1:p.Gln77Ter
ENST00000643774.1:c.193C>T	ENSP00000495482.1:p.Gln65Ter
ENST00000644034.1:c.65-18420C>T	ENSP00000495456.1:n.65-18420C>T
ENST00000644183.1:c.196C>T	ENSP00000495657.1:p.Gln66Ter
ENST00000644297.1:c.*96C>T	ENSP00000495519.1:n.*96C>T
ENST00000644420.1:n.255C>T
ENST00000644425.1:c.180C>T
ENST00000644518.1:c.*96C>T	ENSP00000495793.1:n.*96C>T
ENST00000645188.1:c.229C>T	ENSP00000496224.1:p.Gln77Ter
ENST00000645333.1:n.161C>T
ENST00000645370.1:c.64C>T	ENSP00000494019.1:p.Gln22Ter
ENST00000645549.1:n.493C>T
ENST00000645618.1:c.139C>T	ENSP00000495429.1:p.Gln47Ter
ENST00000645712.1:n.262C>T
ENST00000645955.1:c.229C>T	ENSP00000495755.1:p.Gln77Ter
ENST00000645990.1:c.229C>T	ENSP00000496571.1:p.Gln77Ter
ENST00000646092.1:c.193C>T	ENSP00000496293.1:p.Gln65Ter
ENST00000646279.1:n.526C>T
ENST00000646709.1:c.139C>T	ENSP00000495278.1:p.Gln47Ter
ENST00000646731.1:c.229C>T	ENSP00000493828.1:p.Gln77Ter
ENST00000646960.1:c.229C>T	ENSP00000496481.1:p.Gln77Ter
ENST00000647387.1:c.139C>T	ENSP00000495487.1:p.Gln47Ter
ENST00000336617.7:c.229C>T	ENSP00000337623.2:p.Gln77Ter
ENST00000422660.5:c.229C>T	ENSP00000389877.1:p.Gln77Ter
ENST00000495244.6:n.240C>T
ENST00000611510.4:c.229C>T	ENSP00000481236.2:p.Gln77Ter
NM_001142279.2:c.229C>T , LRG_279t1:c.229C>T	NP_001135751.1:p.Gln77Ter
NM_024570.3:c.229C>T , LRG_279t2:c.229C>T	NP_078846.2:p.Gln77Ter
XM_005266524.2:c.229C>T	XP_005266581.1:p.Gln77Ter
XM_005266525.2:c.229C>T	XP_005266582.1:p.Gln77Ter
XM_006719867.2:c.211C>T	XP_006719930.1:p.Gln71Ter
XM_011535229.1:c.229C>T	XP_011533531.1:p.Gln77Ter
XM_011535230.1:c.229C>T	XP_011533532.1:p.Gln77Ter
XM_011535231.1:c.229C>T	XP_011533533.1:p.Gln77Ter
XM_011535232.1:c.67C>T	XP_011533534.1:p.Gln23Ter
XM_011535233.1:c.-385C>T	XP_011533535.1:n.-385C>T
XM_011535234.1:c.229C>T	XP_011533536.1:p.Gln77Ter
XM_006719867.4:c.211C>T	XP_006719930.1:p.Gln71Ter
XM_011535230.2:c.229C>T	XP_011533532.1:p.Gln77Ter
XM_011535231.2:c.229C>T	XP_011533533.1:p.Gln77Ter
XM_011535233.2:c.-385C>T	XP_011533535.1:n.-385C>T
XM_017020747.1:c.229C>T	XP_016876236.1:p.Gln77Ter
NM_024570.4:c.229C>T MANE Select	NP_078846.2:p.Gln77Ter