Canonical Allele Identifier: CA388259932

Gene: RNASEH2B

Linked Data

• MyVariant Identifiers: chr13:g.51522198A>T (hg19) ; chr13:g.50948062A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50948062A>T , CM000675.2:g.50948062A>T	GRCh38
NC_000013.10:g.51522198A>T , CM000675.1:g.51522198A>T	GRCh37
NC_000013.9:g.50420199A>T	NCBI36
NG_009055.1:g.43307A>T , LRG_279:g.43307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.692A>T MANE Select	ENSP00000337623.2:p.Tyr231Phe
ENST00000422660.6:c.692A>T	ENSP00000389877.1:p.Tyr231Phe
ENST00000459681.3:n.375A>T
ENST00000495244.7:n.703A>T
ENST00000611510.5:c.602A>T	ENSP00000481236.3:p.Tyr201Phe
ENST00000616907.2:c.692A>T	ENSP00000482701.2:p.Tyr231Phe
ENST00000642207.1:c.431A>T
ENST00000642454.1:c.602A>T	ENSP00000494221.1:p.Tyr201Phe
ENST00000642721.1:c.692A>T	ENSP00000495650.1:p.Tyr231Phe
ENST00000642995.1:c.575A>T	ENSP00000493499.1:p.Tyr192Phe
ENST00000643159.1:c.602A>T	ENSP00000495587.1:p.Tyr201Phe
ENST00000643215.1:c.562A>T
ENST00000643405.1:c.340A>T
ENST00000643529.1:c.205A>T
ENST00000643682.1:c.692A>T	ENSP00000493655.1:p.Tyr231Phe
ENST00000643774.1:c.656A>T	ENSP00000495482.1:p.Tyr219Phe
ENST00000644034.1:c.140A>T	ENSP00000495456.1:p.Tyr47Phe
ENST00000644183.1:c.582A>T	ENSP00000495657.1:n.582A>T
ENST00000644297.1:c.*550A>T	ENSP00000495519.1:n.*550A>T
ENST00000644420.1:n.718A>T
ENST00000644425.1:c.643A>T
ENST00000644518.1:c.*559A>T	ENSP00000495793.1:n.*559A>T
ENST00000645188.1:c.683A>T	ENSP00000496224.1:p.Tyr228Phe
ENST00000645201.1:n.89A>T
ENST00000645333.1:n.624A>T
ENST00000645370.1:c.527A>T	ENSP00000494019.1:p.Tyr176Phe
ENST00000645618.1:c.602A>T	ENSP00000495429.1:p.Tyr201Phe
ENST00000645712.1:n.716A>T
ENST00000645912.1:c.30A>T
ENST00000645955.1:c.692A>T	ENSP00000495755.1:p.Tyr231Phe
ENST00000645990.1:c.692A>T	ENSP00000496571.1:p.Tyr231Phe
ENST00000646092.1:c.656A>T	ENSP00000496293.1:p.Tyr219Phe
ENST00000646279.1:n.989A>T
ENST00000646339.1:c.354A>T	ENSP00000495773.1:n.354A>T
ENST00000646709.1:c.602A>T	ENSP00000495278.1:p.Tyr201Phe
ENST00000646731.1:c.683A>T	ENSP00000493828.1:p.Tyr228Phe
ENST00000646960.1:c.692A>T	ENSP00000496481.1:p.Tyr231Phe
ENST00000646964.1:n.1331A>T
ENST00000647387.1:c.602A>T	ENSP00000495487.1:p.Tyr201Phe
ENST00000336617.7:c.692A>T	ENSP00000337623.2:p.Tyr231Phe
ENST00000422660.5:c.692A>T	ENSP00000389877.1:p.Tyr231Phe
ENST00000495244.6:n.703A>T
ENST00000611510.4:c.692A>T	ENSP00000481236.2:p.Tyr231Phe
ENST00000613449.4:n.2754A>T
ENST00000616907.1:c.75A>T
ENST00000621641.1:n.280A>T
NM_001142279.2:c.692A>T , LRG_279t1:c.692A>T	NP_001135751.1:p.Tyr231Phe
NM_024570.3:c.692A>T , LRG_279t2:c.692A>T	NP_078846.2:p.Tyr231Phe
XM_005266524.2:c.692A>T	XP_005266581.1:p.Tyr231Phe
XM_005266525.2:c.692A>T	XP_005266582.1:p.Tyr231Phe
XM_006719867.2:c.674A>T	XP_006719930.1:p.Tyr225Phe
XM_011535229.1:c.692A>T	XP_011533531.1:p.Tyr231Phe
XM_011535230.1:c.692A>T	XP_011533532.1:p.Tyr231Phe
XM_011535231.1:c.692A>T	XP_011533533.1:p.Tyr231Phe
XM_011535232.1:c.530A>T	XP_011533534.1:p.Tyr177Phe
XM_011535233.1:c.284A>T	XP_011533535.1:p.Tyr95Phe
XM_006719867.4:c.674A>T	XP_006719930.1:p.Tyr225Phe
XM_011535230.2:c.692A>T	XP_011533532.1:p.Tyr231Phe
XM_011535231.2:c.692A>T	XP_011533533.1:p.Tyr231Phe
XM_011535233.2:c.284A>T	XP_011533535.1:p.Tyr95Phe
XM_017020747.1:c.692A>T	XP_016876236.1:p.Tyr231Phe
NM_024570.4:c.692A>T MANE Select	NP_078846.2:p.Tyr231Phe