Canonical Allele Identifier: CA2573149677

Gene: RNASEH2B

Linked Data

• ClinVar Variation Id: 1548762
• ClinVar RCV Id: RCV002187107
• dbSNP Id: rs2137937744
• gnomAD v4: 13-50930662-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50930663_50930664del , CM000675.2:g.50930663_50930664del	GRCh38
NC_000013.10:g.51504799_51504800del , CM000675.1:g.51504799_51504800del	GRCh37
NC_000013.9:g.50402800_50402801del	NCBI36
NG_009055.1:g.25908_25909del , LRG_279:g.25908_25909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.245-20_245-19del MANE Select	ENSP00000337623.2:n.245-20_245-19del
ENST00000422660.6:c.245-20_245-19del	ENSP00000389877.1:n.245-20_245-19del
ENST00000459681.3:n.43-20_43-19del
ENST00000495244.7:n.256-20_256-19del
ENST00000611510.5:c.155-20_155-19del	ENSP00000481236.3:n.155-20_155-19del
ENST00000616907.2:c.245-20_245-19del	ENSP00000482701.2:n.245-20_245-19del
ENST00000637648.2:c.155-20_155-19del	ENSP00000490077.2:n.155-20_155-19del
ENST00000642207.1:c.99-20_99-19del
ENST00000642454.1:c.155-20_155-19del	ENSP00000494221.1:n.155-20_155-19del
ENST00000642721.1:c.245-20_245-19del	ENSP00000495650.1:n.245-20_245-19del
ENST00000642995.1:c.137-20_137-19del	ENSP00000493499.1:n.137-20_137-19del
ENST00000643159.1:c.155-20_155-19del	ENSP00000495587.1:n.155-20_155-19del
ENST00000643215.1:c.115-20_115-19del
ENST00000643462.1:c.*60-20_*60-19del	ENSP00000496130.1:n.*60-20_*60-19del
ENST00000643682.1:c.245-20_245-19del	ENSP00000493655.1:n.245-20_245-19del
ENST00000643774.1:c.209-20_209-19del	ENSP00000495482.1:n.209-20_209-19del
ENST00000644034.1:c.65-17324_65-17323del	ENSP00000495456.1:n.65-17324_65-17323del
ENST00000644183.1:c.211+1081_211+1082del	ENSP00000495657.1:n.211+1081_211+1082del
ENST00000644297.1:c.*112-20_*112-19del	ENSP00000495519.1:n.*112-20_*112-19del
ENST00000644420.1:n.271-20_271-19del
ENST00000644425.1:c.196-20_196-19del
ENST00000644518.1:c.*112-20_*112-19del	ENSP00000495793.1:n.*112-20_*112-19del
ENST00000645188.1:c.245-20_245-19del	ENSP00000496224.1:n.245-20_245-19del
ENST00000645333.1:n.177-20_177-19del
ENST00000645370.1:c.80-20_80-19del	ENSP00000494019.1:n.80-20_80-19del
ENST00000645549.1:n.509-20_509-19del
ENST00000645618.1:c.155-20_155-19del	ENSP00000495429.1:n.155-20_155-19del
ENST00000645712.1:n.278-20_278-19del
ENST00000645955.1:c.245-20_245-19del	ENSP00000495755.1:n.245-20_245-19del
ENST00000645990.1:c.245-20_245-19del	ENSP00000496571.1:n.245-20_245-19del
ENST00000646092.1:c.209-20_209-19del	ENSP00000496293.1:n.209-20_209-19del
ENST00000646279.1:n.542-20_542-19del
ENST00000646709.1:c.155-20_155-19del	ENSP00000495278.1:n.155-20_155-19del
ENST00000646731.1:c.245-20_245-19del	ENSP00000493828.1:n.245-20_245-19del
ENST00000646960.1:c.245-20_245-19del	ENSP00000496481.1:n.245-20_245-19del
ENST00000647387.1:c.155-20_155-19del	ENSP00000495487.1:n.155-20_155-19del
ENST00000336617.7:c.245-20_245-19del	ENSP00000337623.2:n.245-20_245-19del
ENST00000422660.5:c.245-20_245-19del	ENSP00000389877.1:n.245-20_245-19del
ENST00000459681.2:n.43-20_43-19del
ENST00000495244.6:n.256-20_256-19del
ENST00000611510.4:c.245-20_245-19del	ENSP00000481236.2:n.245-20_245-19del
NM_001142279.2:c.245-20_245-19del , LRG_279t1:c.245-20_245-19del	NP_001135751.1:n.245-20_245-19del
NM_024570.3:c.245-20_245-19del , LRG_279t2:c.245-20_245-19del	NP_078846.2:n.245-20_245-19del
XM_005266524.2:c.245-20_245-19del	XP_005266581.1:n.245-20_245-19del
XM_005266525.2:c.245-20_245-19del	XP_005266582.1:n.245-20_245-19del
XM_006719867.2:c.227-20_227-19del	XP_006719930.1:n.227-20_227-19del
XM_011535229.1:c.245-20_245-19del	XP_011533531.1:n.245-20_245-19del
XM_011535230.1:c.245-20_245-19del	XP_011533532.1:n.245-20_245-19del
XM_011535231.1:c.245-20_245-19del	XP_011533533.1:n.245-20_245-19del
XM_011535232.1:c.83-20_83-19del	XP_011533534.1:n.83-20_83-19del
XM_011535233.1:c.-369-20_-369-19del	XP_011533535.1:n.-369-20_-369-19del
XM_011535234.1:c.245-20_245-19del	XP_011533536.1:n.245-20_245-19del
XM_006719867.4:c.227-20_227-19del	XP_006719930.1:n.227-20_227-19del
XM_011535230.2:c.245-20_245-19del	XP_011533532.1:n.245-20_245-19del
XM_011535231.2:c.245-20_245-19del	XP_011533533.1:n.245-20_245-19del
XM_011535233.2:c.-369-20_-369-19del	XP_011533535.1:n.-369-20_-369-19del
XM_017020747.1:c.245-20_245-19del	XP_016876236.1:n.245-20_245-19del
NM_024570.4:c.245-20_245-19del MANE Select	NP_078846.2:n.245-20_245-19del