Canonical Allele Identifier: CA388259796

Gene: RNASEH2B

Linked Data

• MyVariant Identifiers: chr13:g.51522133T>G (hg19) ; chr13:g.50947997T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50947997T>G , CM000675.2:g.50947997T>G	GRCh38
NC_000013.10:g.51522133T>G , CM000675.1:g.51522133T>G	GRCh37
NC_000013.9:g.50420134T>G	NCBI36
NG_009055.1:g.43242T>G , LRG_279:g.43242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.627T>G MANE Select	ENSP00000337623.2:p.Ile209Met
ENST00000422660.6:c.627T>G	ENSP00000389877.1:p.Ile209Met
ENST00000459681.3:n.310T>G
ENST00000495244.7:n.638T>G
ENST00000611510.5:c.537T>G	ENSP00000481236.3:p.Ile179Met
ENST00000616907.2:c.627T>G	ENSP00000482701.2:p.Ile209Met
ENST00000642207.1:c.366T>G
ENST00000642454.1:c.537T>G	ENSP00000494221.1:p.Ile179Met
ENST00000642721.1:c.627T>G	ENSP00000495650.1:p.Ile209Met
ENST00000642995.1:c.510T>G	ENSP00000493499.1:p.Ile170Met
ENST00000643159.1:c.537T>G	ENSP00000495587.1:p.Ile179Met
ENST00000643215.1:c.497T>G
ENST00000643405.1:c.275T>G
ENST00000643529.1:c.140T>G
ENST00000643682.1:c.627T>G	ENSP00000493655.1:p.Ile209Met
ENST00000643774.1:c.591T>G	ENSP00000495482.1:p.Ile197Met
ENST00000644034.1:c.75T>G	ENSP00000495456.1:p.Ile25Met
ENST00000644183.1:c.517T>G	ENSP00000495657.1:n.517T>G
ENST00000644297.1:c.*485T>G	ENSP00000495519.1:n.*485T>G
ENST00000644420.1:n.653T>G
ENST00000644425.1:c.578T>G
ENST00000644518.1:c.*494T>G	ENSP00000495793.1:n.*494T>G
ENST00000645188.1:c.618T>G	ENSP00000496224.1:p.Ile206Met
ENST00000645201.1:n.24T>G
ENST00000645333.1:n.559T>G
ENST00000645370.1:c.462T>G	ENSP00000494019.1:p.Ile154Met
ENST00000645618.1:c.537T>G	ENSP00000495429.1:p.Ile179Met
ENST00000645712.1:n.651T>G
ENST00000645955.1:c.627T>G	ENSP00000495755.1:p.Ile209Met
ENST00000645990.1:c.627T>G	ENSP00000496571.1:p.Ile209Met
ENST00000646092.1:c.591T>G	ENSP00000496293.1:p.Ile197Met
ENST00000646279.1:n.924T>G
ENST00000646339.1:c.289T>G	ENSP00000495773.1:n.289T>G
ENST00000646709.1:c.537T>G	ENSP00000495278.1:p.Ile179Met
ENST00000646731.1:c.618T>G	ENSP00000493828.1:p.Ile206Met
ENST00000646960.1:c.627T>G	ENSP00000496481.1:p.Ile209Met
ENST00000646964.1:n.1266T>G
ENST00000647387.1:c.537T>G	ENSP00000495487.1:p.Ile179Met
ENST00000336617.7:c.627T>G	ENSP00000337623.2:p.Ile209Met
ENST00000422660.5:c.627T>G	ENSP00000389877.1:p.Ile209Met
ENST00000495244.6:n.638T>G
ENST00000611510.4:c.627T>G	ENSP00000481236.2:p.Ile209Met
ENST00000613449.4:n.2689T>G
ENST00000616907.1:c.10T>G
ENST00000621641.1:n.215T>G
NM_001142279.2:c.627T>G , LRG_279t1:c.627T>G	NP_001135751.1:p.Ile209Met
NM_024570.3:c.627T>G , LRG_279t2:c.627T>G	NP_078846.2:p.Ile209Met
XM_005266524.2:c.627T>G	XP_005266581.1:p.Ile209Met
XM_005266525.2:c.627T>G	XP_005266582.1:p.Ile209Met
XM_006719867.2:c.609T>G	XP_006719930.1:p.Ile203Met
XM_011535229.1:c.627T>G	XP_011533531.1:p.Ile209Met
XM_011535230.1:c.627T>G	XP_011533532.1:p.Ile209Met
XM_011535231.1:c.627T>G	XP_011533533.1:p.Ile209Met
XM_011535232.1:c.465T>G	XP_011533534.1:p.Ile155Met
XM_011535233.1:c.219T>G	XP_011533535.1:p.Ile73Met
XM_006719867.4:c.609T>G	XP_006719930.1:p.Ile203Met
XM_011535230.2:c.627T>G	XP_011533532.1:p.Ile209Met
XM_011535231.2:c.627T>G	XP_011533533.1:p.Ile209Met
XM_011535233.2:c.219T>G	XP_011533535.1:p.Ile73Met
XM_017020747.1:c.627T>G	XP_016876236.1:p.Ile209Met
NM_024570.4:c.627T>G MANE Select	NP_078846.2:p.Ile209Met