Canonical Allele Identifier: CA388259009

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50930728-T-G
• MyVariant Identifiers: chr13:g.51504864T>G (hg19) ; chr13:g.50930728T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50930728T>G , CM000675.2:g.50930728T>G	GRCh38
NC_000013.10:g.51504864T>G , CM000675.1:g.51504864T>G	GRCh37
NC_000013.9:g.50402865T>G	NCBI36
NG_009055.1:g.25973T>G , LRG_279:g.25973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.290T>G MANE Select	ENSP00000337623.2:p.Leu97Arg
ENST00000422660.6:c.290T>G	ENSP00000389877.1:p.Leu97Arg
ENST00000459681.3:n.88T>G
ENST00000495244.7:n.301T>G
ENST00000611510.5:c.200T>G	ENSP00000481236.3:p.Leu67Arg
ENST00000616907.2:c.290T>G	ENSP00000482701.2:p.Leu97Arg
ENST00000637648.2:c.200T>G	ENSP00000490077.2:p.Leu67Arg
ENST00000642207.1:c.144T>G
ENST00000642454.1:c.200T>G	ENSP00000494221.1:p.Leu67Arg
ENST00000642721.1:c.290T>G	ENSP00000495650.1:p.Leu97Arg
ENST00000642995.1:c.182T>G	ENSP00000493499.1:p.Leu61Arg
ENST00000643159.1:c.200T>G	ENSP00000495587.1:p.Leu67Arg
ENST00000643215.1:c.160T>G
ENST00000643462.1:c.*105T>G	ENSP00000496130.1:n.*105T>G
ENST00000643682.1:c.290T>G	ENSP00000493655.1:p.Leu97Arg
ENST00000643774.1:c.254T>G	ENSP00000495482.1:p.Leu85Arg
ENST00000644034.1:c.65-17259T>G	ENSP00000495456.1:n.65-17259T>G
ENST00000644183.1:c.211+1146T>G	ENSP00000495657.1:n.211+1146T>G
ENST00000644297.1:c.*157T>G	ENSP00000495519.1:n.*157T>G
ENST00000644420.1:n.316T>G
ENST00000644425.1:c.241T>G
ENST00000644518.1:c.*157T>G	ENSP00000495793.1:n.*157T>G
ENST00000645188.1:c.290T>G	ENSP00000496224.1:p.Leu97Arg
ENST00000645333.1:n.222T>G
ENST00000645370.1:c.125T>G	ENSP00000494019.1:p.Leu42Arg
ENST00000645549.1:n.554T>G
ENST00000645618.1:c.200T>G	ENSP00000495429.1:p.Leu67Arg
ENST00000645712.1:n.323T>G
ENST00000645955.1:c.290T>G	ENSP00000495755.1:p.Leu97Arg
ENST00000645990.1:c.290T>G	ENSP00000496571.1:p.Leu97Arg
ENST00000646092.1:c.254T>G	ENSP00000496293.1:p.Leu85Arg
ENST00000646279.1:n.587T>G
ENST00000646709.1:c.200T>G	ENSP00000495278.1:p.Leu67Arg
ENST00000646731.1:c.290T>G	ENSP00000493828.1:p.Leu97Arg
ENST00000646960.1:c.290T>G	ENSP00000496481.1:p.Leu97Arg
ENST00000647387.1:c.200T>G	ENSP00000495487.1:p.Leu67Arg
ENST00000336617.7:c.290T>G	ENSP00000337623.2:p.Leu97Arg
ENST00000422660.5:c.290T>G	ENSP00000389877.1:p.Leu97Arg
ENST00000459681.2:n.88T>G
ENST00000495244.6:n.301T>G
ENST00000611510.4:c.290T>G	ENSP00000481236.2:p.Leu97Arg
NM_001142279.2:c.290T>G , LRG_279t1:c.290T>G	NP_001135751.1:p.Leu97Arg
NM_024570.3:c.290T>G , LRG_279t2:c.290T>G	NP_078846.2:p.Leu97Arg
XM_005266524.2:c.290T>G	XP_005266581.1:p.Leu97Arg
XM_005266525.2:c.290T>G	XP_005266582.1:p.Leu97Arg
XM_006719867.2:c.272T>G	XP_006719930.1:p.Leu91Arg
XM_011535229.1:c.290T>G	XP_011533531.1:p.Leu97Arg
XM_011535230.1:c.290T>G	XP_011533532.1:p.Leu97Arg
XM_011535231.1:c.290T>G	XP_011533533.1:p.Leu97Arg
XM_011535232.1:c.128T>G	XP_011533534.1:p.Leu43Arg
XM_011535233.1:c.-324T>G	XP_011533535.1:n.-324T>G
XM_011535234.1:c.290T>G	XP_011533536.1:p.Leu97Arg
XM_006719867.4:c.272T>G	XP_006719930.1:p.Leu91Arg
XM_011535230.2:c.290T>G	XP_011533532.1:p.Leu97Arg
XM_011535231.2:c.290T>G	XP_011533533.1:p.Leu97Arg
XM_011535233.2:c.-324T>G	XP_011533535.1:n.-324T>G
XM_017020747.1:c.290T>G	XP_016876236.1:p.Leu97Arg
NM_024570.4:c.290T>G MANE Select	NP_078846.2:p.Leu97Arg