Canonical Allele Identifier: CA6985517

Gene: RNASEH2B

Linked Data

• dbSNP Id: rs781518432
• ExAC: 13:51504841 A / AC
• gnomAD v2: 13-51504841-A-AC
• gnomAD v4: 13-50930705-A-AC
• MyVariant Identifiers: chr13:g.51504841_51504842insC (hg19) ; chr13:g.50930705_50930706insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50930707dup , CM000675.2:g.50930707dup	GRCh38
NC_000013.10:g.51504843dup , CM000675.1:g.51504843dup	GRCh37
NC_000013.9:g.50402844dup	NCBI36
NG_009055.1:g.25952dup , LRG_279:g.25952dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.269dup MANE Select	ENSP00000337623.2:p.Val91CysfsTer15
ENST00000422660.6:c.269dup	ENSP00000389877.1:p.Val91CysfsTer15
ENST00000459681.3:n.67dup
ENST00000495244.7:n.280dup
ENST00000611510.5:c.179dup	ENSP00000481236.3:p.Val61CysfsTer15
ENST00000616907.2:c.269dup	ENSP00000482701.2:p.Val91CysfsTer15
ENST00000637648.2:c.179dup	ENSP00000490077.2:p.Val61CysfsTer15
ENST00000642207.1:c.123dup
ENST00000642454.1:c.179dup	ENSP00000494221.1:p.Val61CysfsTer15
ENST00000642721.1:c.269dup	ENSP00000495650.1:p.Val91CysfsTer15
ENST00000642995.1:c.161dup	ENSP00000493499.1:p.Val55CysfsTer15
ENST00000643159.1:c.179dup	ENSP00000495587.1:p.Val61CysfsTer15
ENST00000643215.1:c.139dup
ENST00000643462.1:c.*84dup	ENSP00000496130.1:n.*84dup
ENST00000643682.1:c.269dup	ENSP00000493655.1:p.Val91CysfsTer15
ENST00000643774.1:c.233dup	ENSP00000495482.1:p.Val79CysfsTer15
ENST00000644034.1:c.65-17280dup	ENSP00000495456.1:n.65-17280dup
ENST00000644183.1:c.211+1125dup	ENSP00000495657.1:n.211+1125dup
ENST00000644297.1:c.*136dup	ENSP00000495519.1:n.*136dup
ENST00000644420.1:n.295dup
ENST00000644425.1:c.220dup
ENST00000644518.1:c.*136dup	ENSP00000495793.1:n.*136dup
ENST00000645188.1:c.269dup	ENSP00000496224.1:p.Val91CysfsTer15
ENST00000645333.1:n.201dup
ENST00000645370.1:c.104dup	ENSP00000494019.1:p.Val36CysfsTer15
ENST00000645549.1:n.533dup
ENST00000645618.1:c.179dup	ENSP00000495429.1:p.Val61CysfsTer15
ENST00000645712.1:n.302dup
ENST00000645955.1:c.269dup	ENSP00000495755.1:p.Val91CysfsTer15
ENST00000645990.1:c.269dup	ENSP00000496571.1:p.Val91CysfsTer15
ENST00000646092.1:c.233dup	ENSP00000496293.1:p.Val79CysfsTer15
ENST00000646279.1:n.566dup
ENST00000646709.1:c.179dup	ENSP00000495278.1:p.Val61CysfsTer15
ENST00000646731.1:c.269dup	ENSP00000493828.1:p.Val91CysfsTer15
ENST00000646960.1:c.269dup	ENSP00000496481.1:p.Val91CysfsTer15
ENST00000647387.1:c.179dup	ENSP00000495487.1:p.Val61CysfsTer15
ENST00000336617.7:c.269dup	ENSP00000337623.2:p.Val91CysfsTer15
ENST00000422660.5:c.269dup	ENSP00000389877.1:p.Val91CysfsTer15
ENST00000459681.2:n.67dup
ENST00000495244.6:n.280dup
ENST00000611510.4:c.269dup	ENSP00000481236.2:p.Val91CysfsTer15
NM_001142279.2:c.269dup , LRG_279t1:c.269dup	NP_001135751.1:p.Val91CysfsTer15
NM_024570.3:c.269dup , LRG_279t2:c.269dup	NP_078846.2:p.Val91CysfsTer15
XM_005266524.2:c.269dup	XP_005266581.1:p.Val91CysfsTer15
XM_005266525.2:c.269dup	XP_005266582.1:p.Val91CysfsTer15
XM_006719867.2:c.251dup	XP_006719930.1:p.Val85CysfsTer15
XM_011535229.1:c.269dup	XP_011533531.1:p.Val91CysfsTer15
XM_011535230.1:c.269dup	XP_011533532.1:p.Val91CysfsTer15
XM_011535231.1:c.269dup	XP_011533533.1:p.Val91CysfsTer15
XM_011535232.1:c.107dup	XP_011533534.1:p.Val37CysfsTer15
XM_011535233.1:c.-345dup	XP_011533535.1:n.-345dup
XM_011535234.1:c.269dup	XP_011533536.1:p.Val91CysfsTer15
XM_006719867.4:c.251dup	XP_006719930.1:p.Val85CysfsTer15
XM_011535230.2:c.269dup	XP_011533532.1:p.Val91CysfsTer15
XM_011535231.2:c.269dup	XP_011533533.1:p.Val91CysfsTer15
XM_011535233.2:c.-345dup	XP_011533535.1:n.-345dup
XM_017020747.1:c.269dup	XP_016876236.1:p.Val91CysfsTer15
NM_024570.4:c.269dup MANE Select	NP_078846.2:p.Val91CysfsTer15