Canonical Allele Identifier: CA388259777

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50947989-G-T
• MyVariant Identifiers: chr13:g.51522125G>T (hg19) ; chr13:g.50947989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50947989G>T , CM000675.2:g.50947989G>T	GRCh38
NC_000013.10:g.51522125G>T , CM000675.1:g.51522125G>T	GRCh37
NC_000013.9:g.50420126G>T	NCBI36
NG_009055.1:g.43234G>T , LRG_279:g.43234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.619G>T MANE Select	ENSP00000337623.2:p.Asp207Tyr
ENST00000422660.6:c.619G>T	ENSP00000389877.1:p.Asp207Tyr
ENST00000459681.3:n.302G>T
ENST00000495244.7:n.630G>T
ENST00000611510.5:c.529G>T	ENSP00000481236.3:p.Asp177Tyr
ENST00000616907.2:c.619G>T	ENSP00000482701.2:p.Asp207Tyr
ENST00000642207.1:c.358G>T
ENST00000642454.1:c.529G>T	ENSP00000494221.1:p.Asp177Tyr
ENST00000642721.1:c.619G>T	ENSP00000495650.1:p.Asp207Tyr
ENST00000642995.1:c.502G>T	ENSP00000493499.1:p.Asp168Tyr
ENST00000643159.1:c.529G>T	ENSP00000495587.1:p.Asp177Tyr
ENST00000643215.1:c.489G>T
ENST00000643405.1:c.267G>T
ENST00000643529.1:c.132G>T
ENST00000643682.1:c.619G>T	ENSP00000493655.1:p.Asp207Tyr
ENST00000643774.1:c.583G>T	ENSP00000495482.1:p.Asp195Tyr
ENST00000644034.1:c.67G>T	ENSP00000495456.1:p.Asp23Tyr
ENST00000644183.1:c.509G>T	ENSP00000495657.1:n.509G>T
ENST00000644297.1:c.*477G>T	ENSP00000495519.1:n.*477G>T
ENST00000644420.1:n.645G>T
ENST00000644425.1:c.570G>T
ENST00000644518.1:c.*486G>T	ENSP00000495793.1:n.*486G>T
ENST00000645188.1:c.610G>T	ENSP00000496224.1:p.Asp204Tyr
ENST00000645201.1:n.16G>T
ENST00000645333.1:n.551G>T
ENST00000645370.1:c.454G>T	ENSP00000494019.1:p.Asp152Tyr
ENST00000645618.1:c.529G>T	ENSP00000495429.1:p.Asp177Tyr
ENST00000645712.1:n.643G>T
ENST00000645955.1:c.619G>T	ENSP00000495755.1:p.Asp207Tyr
ENST00000645990.1:c.619G>T	ENSP00000496571.1:p.Asp207Tyr
ENST00000646092.1:c.583G>T	ENSP00000496293.1:p.Asp195Tyr
ENST00000646279.1:n.916G>T
ENST00000646339.1:c.281G>T	ENSP00000495773.1:n.281G>T
ENST00000646709.1:c.529G>T	ENSP00000495278.1:p.Asp177Tyr
ENST00000646731.1:c.610G>T	ENSP00000493828.1:p.Asp204Tyr
ENST00000646960.1:c.619G>T	ENSP00000496481.1:p.Asp207Tyr
ENST00000646964.1:n.1258G>T
ENST00000647387.1:c.529G>T	ENSP00000495487.1:p.Asp177Tyr
ENST00000336617.7:c.619G>T	ENSP00000337623.2:p.Asp207Tyr
ENST00000422660.5:c.619G>T	ENSP00000389877.1:p.Asp207Tyr
ENST00000495244.6:n.630G>T
ENST00000611510.4:c.619G>T	ENSP00000481236.2:p.Asp207Tyr
ENST00000613449.4:n.2681G>T
ENST00000616907.1:c.2G>T
ENST00000621641.1:n.207G>T
NM_001142279.2:c.619G>T , LRG_279t1:c.619G>T	NP_001135751.1:p.Asp207Tyr
NM_024570.3:c.619G>T , LRG_279t2:c.619G>T	NP_078846.2:p.Asp207Tyr
XM_005266524.2:c.619G>T	XP_005266581.1:p.Asp207Tyr
XM_005266525.2:c.619G>T	XP_005266582.1:p.Asp207Tyr
XM_006719867.2:c.601G>T	XP_006719930.1:p.Asp201Tyr
XM_011535229.1:c.619G>T	XP_011533531.1:p.Asp207Tyr
XM_011535230.1:c.619G>T	XP_011533532.1:p.Asp207Tyr
XM_011535231.1:c.619G>T	XP_011533533.1:p.Asp207Tyr
XM_011535232.1:c.457G>T	XP_011533534.1:p.Asp153Tyr
XM_011535233.1:c.211G>T	XP_011533535.1:p.Asp71Tyr
XM_006719867.4:c.601G>T	XP_006719930.1:p.Asp201Tyr
XM_011535230.2:c.619G>T	XP_011533532.1:p.Asp207Tyr
XM_011535231.2:c.619G>T	XP_011533533.1:p.Asp207Tyr
XM_011535233.2:c.211G>T	XP_011533535.1:p.Asp71Tyr
XM_017020747.1:c.619G>T	XP_016876236.1:p.Asp207Tyr
NM_024570.4:c.619G>T MANE Select	NP_078846.2:p.Asp207Tyr