Canonical Allele Identifier: CA388258987

Gene: RNASEH2B

Linked Data

• MyVariant Identifiers: chr13:g.51504854C>A (hg19) ; chr13:g.50930718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50930718C>A , CM000675.2:g.50930718C>A	GRCh38
NC_000013.10:g.51504854C>A , CM000675.1:g.51504854C>A	GRCh37
NC_000013.9:g.50402855C>A	NCBI36
NG_009055.1:g.25963C>A , LRG_279:g.25963C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.280C>A MANE Select	ENSP00000337623.2:p.Leu94Ile
ENST00000422660.6:c.280C>A	ENSP00000389877.1:p.Leu94Ile
ENST00000459681.3:n.78C>A
ENST00000495244.7:n.291C>A
ENST00000611510.5:c.190C>A	ENSP00000481236.3:p.Leu64Ile
ENST00000616907.2:c.280C>A	ENSP00000482701.2:p.Leu94Ile
ENST00000637648.2:c.190C>A	ENSP00000490077.2:p.Leu64Ile
ENST00000642207.1:c.134C>A
ENST00000642454.1:c.190C>A	ENSP00000494221.1:p.Leu64Ile
ENST00000642721.1:c.280C>A	ENSP00000495650.1:p.Leu94Ile
ENST00000642995.1:c.172C>A	ENSP00000493499.1:p.Leu58Ile
ENST00000643159.1:c.190C>A	ENSP00000495587.1:p.Leu64Ile
ENST00000643215.1:c.150C>A
ENST00000643462.1:c.*95C>A	ENSP00000496130.1:n.*95C>A
ENST00000643682.1:c.280C>A	ENSP00000493655.1:p.Leu94Ile
ENST00000643774.1:c.244C>A	ENSP00000495482.1:p.Leu82Ile
ENST00000644034.1:c.65-17269C>A	ENSP00000495456.1:n.65-17269C>A
ENST00000644183.1:c.211+1136C>A	ENSP00000495657.1:n.211+1136C>A
ENST00000644297.1:c.*147C>A	ENSP00000495519.1:n.*147C>A
ENST00000644420.1:n.306C>A
ENST00000644425.1:c.231C>A
ENST00000644518.1:c.*147C>A	ENSP00000495793.1:n.*147C>A
ENST00000645188.1:c.280C>A	ENSP00000496224.1:p.Leu94Ile
ENST00000645333.1:n.212C>A
ENST00000645370.1:c.115C>A	ENSP00000494019.1:p.Leu39Ile
ENST00000645549.1:n.544C>A
ENST00000645618.1:c.190C>A	ENSP00000495429.1:p.Leu64Ile
ENST00000645712.1:n.313C>A
ENST00000645955.1:c.280C>A	ENSP00000495755.1:p.Leu94Ile
ENST00000645990.1:c.280C>A	ENSP00000496571.1:p.Leu94Ile
ENST00000646092.1:c.244C>A	ENSP00000496293.1:p.Leu82Ile
ENST00000646279.1:n.577C>A
ENST00000646709.1:c.190C>A	ENSP00000495278.1:p.Leu64Ile
ENST00000646731.1:c.280C>A	ENSP00000493828.1:p.Leu94Ile
ENST00000646960.1:c.280C>A	ENSP00000496481.1:p.Leu94Ile
ENST00000647387.1:c.190C>A	ENSP00000495487.1:p.Leu64Ile
ENST00000336617.7:c.280C>A	ENSP00000337623.2:p.Leu94Ile
ENST00000422660.5:c.280C>A	ENSP00000389877.1:p.Leu94Ile
ENST00000459681.2:n.78C>A
ENST00000495244.6:n.291C>A
ENST00000611510.4:c.280C>A	ENSP00000481236.2:p.Leu94Ile
NM_001142279.2:c.280C>A , LRG_279t1:c.280C>A	NP_001135751.1:p.Leu94Ile
NM_024570.3:c.280C>A , LRG_279t2:c.280C>A	NP_078846.2:p.Leu94Ile
XM_005266524.2:c.280C>A	XP_005266581.1:p.Leu94Ile
XM_005266525.2:c.280C>A	XP_005266582.1:p.Leu94Ile
XM_006719867.2:c.262C>A	XP_006719930.1:p.Leu88Ile
XM_011535229.1:c.280C>A	XP_011533531.1:p.Leu94Ile
XM_011535230.1:c.280C>A	XP_011533532.1:p.Leu94Ile
XM_011535231.1:c.280C>A	XP_011533533.1:p.Leu94Ile
XM_011535232.1:c.118C>A	XP_011533534.1:p.Leu40Ile
XM_011535233.1:c.-334C>A	XP_011533535.1:n.-334C>A
XM_011535234.1:c.280C>A	XP_011533536.1:p.Leu94Ile
XM_006719867.4:c.262C>A	XP_006719930.1:p.Leu88Ile
XM_011535230.2:c.280C>A	XP_011533532.1:p.Leu94Ile
XM_011535231.2:c.280C>A	XP_011533533.1:p.Leu94Ile
XM_011535233.2:c.-334C>A	XP_011533535.1:n.-334C>A
XM_017020747.1:c.280C>A	XP_016876236.1:p.Leu94Ile
NM_024570.4:c.280C>A MANE Select	NP_078846.2:p.Leu94Ile