Canonical Allele Identifier: CA388259498

Gene: RNASEH2B

Linked Data

• MyVariant Identifiers: chr13:g.51517517G>T (hg19) ; chr13:g.50943381G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50943381G>T , CM000675.2:g.50943381G>T	GRCh38
NC_000013.10:g.51517517G>T , CM000675.1:g.51517517G>T	GRCh37
NC_000013.9:g.50415518G>T	NCBI36
NG_009055.1:g.38626G>T , LRG_279:g.38626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.497G>T MANE Select	ENSP00000337623.2:p.Trp166Leu
ENST00000422660.6:c.497G>T	ENSP00000389877.1:p.Trp166Leu
ENST00000459681.3:n.180G>T
ENST00000495244.7:n.508G>T
ENST00000611510.5:c.407G>T	ENSP00000481236.3:p.Trp136Leu
ENST00000616907.2:c.497G>T	ENSP00000482701.2:p.Trp166Leu
ENST00000642207.1:c.236G>T
ENST00000642454.1:c.407G>T	ENSP00000494221.1:p.Trp136Leu
ENST00000642721.1:c.497G>T	ENSP00000495650.1:p.Trp166Leu
ENST00000642995.1:c.380G>T	ENSP00000493499.1:p.Trp127Leu
ENST00000643159.1:c.407G>T	ENSP00000495587.1:p.Trp136Leu
ENST00000643215.1:c.367G>T
ENST00000643405.1:c.145G>T
ENST00000643529.1:c.10G>T
ENST00000643682.1:c.497G>T	ENSP00000493655.1:p.Trp166Leu
ENST00000643774.1:c.461G>T	ENSP00000495482.1:p.Trp154Leu
ENST00000644034.1:c.65-4606G>T	ENSP00000495456.1:n.65-4606G>T
ENST00000644183.1:c.387G>T	ENSP00000495657.1:n.387G>T
ENST00000644297.1:c.*355G>T	ENSP00000495519.1:n.*355G>T
ENST00000644420.1:n.523G>T
ENST00000644425.1:c.448G>T
ENST00000644518.1:c.*364G>T	ENSP00000495793.1:n.*364G>T
ENST00000645188.1:c.488G>T	ENSP00000496224.1:p.Trp163Leu
ENST00000645333.1:n.429G>T
ENST00000645370.1:c.332G>T	ENSP00000494019.1:p.Trp111Leu
ENST00000645618.1:c.407G>T	ENSP00000495429.1:p.Trp136Leu
ENST00000645712.1:n.521G>T
ENST00000645955.1:c.497G>T	ENSP00000495755.1:p.Trp166Leu
ENST00000645990.1:c.497G>T	ENSP00000496571.1:p.Trp166Leu
ENST00000646092.1:c.461G>T	ENSP00000496293.1:p.Trp154Leu
ENST00000646279.1:n.794G>T
ENST00000646339.1:c.159G>T	ENSP00000495773.1:n.159G>T
ENST00000646709.1:c.407G>T	ENSP00000495278.1:p.Trp136Leu
ENST00000646731.1:c.488G>T	ENSP00000493828.1:p.Trp163Leu
ENST00000646960.1:c.497G>T	ENSP00000496481.1:p.Trp166Leu
ENST00000646964.1:n.1136G>T
ENST00000647387.1:c.407G>T	ENSP00000495487.1:p.Trp136Leu
ENST00000336617.7:c.497G>T	ENSP00000337623.2:p.Trp166Leu
ENST00000422660.5:c.497G>T	ENSP00000389877.1:p.Trp166Leu
ENST00000495244.6:n.508G>T
ENST00000611510.4:c.497G>T	ENSP00000481236.2:p.Trp166Leu
ENST00000613449.4:n.2559G>T
ENST00000621641.1:n.85G>T
NM_001142279.2:c.497G>T , LRG_279t1:c.497G>T	NP_001135751.1:p.Trp166Leu
NM_024570.3:c.497G>T , LRG_279t2:c.497G>T	NP_078846.2:p.Trp166Leu
XM_005266524.2:c.497G>T	XP_005266581.1:p.Trp166Leu
XM_005266525.2:c.497G>T	XP_005266582.1:p.Trp166Leu
XM_006719867.2:c.479G>T	XP_006719930.1:p.Trp160Leu
XM_011535229.1:c.497G>T	XP_011533531.1:p.Trp166Leu
XM_011535230.1:c.497G>T	XP_011533532.1:p.Trp166Leu
XM_011535231.1:c.497G>T	XP_011533533.1:p.Trp166Leu
XM_011535232.1:c.335G>T	XP_011533534.1:p.Trp112Leu
XM_011535233.1:c.89G>T	XP_011533535.1:p.Trp30Leu
XM_011535234.1:c.497G>T	XP_011533536.1:p.Trp166Leu
XM_006719867.4:c.479G>T	XP_006719930.1:p.Trp160Leu
XM_011535230.2:c.497G>T	XP_011533532.1:p.Trp166Leu
XM_011535231.2:c.497G>T	XP_011533533.1:p.Trp166Leu
XM_011535233.2:c.89G>T	XP_011533535.1:p.Trp30Leu
XM_017020747.1:c.497G>T	XP_016876236.1:p.Trp166Leu
NM_024570.4:c.497G>T MANE Select	NP_078846.2:p.Trp166Leu