Canonical Allele Identifier: CA388259485

Gene: RNASEH2B

Linked Data

• MyVariant Identifiers: chr13:g.51517512A>T (hg19) ; chr13:g.50943376A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50943376A>T , CM000675.2:g.50943376A>T	GRCh38
NC_000013.10:g.51517512A>T , CM000675.1:g.51517512A>T	GRCh37
NC_000013.9:g.50415513A>T	NCBI36
NG_009055.1:g.38621A>T , LRG_279:g.38621A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.492A>T MANE Select	ENSP00000337623.2:p.Leu164Phe
ENST00000422660.6:c.492A>T	ENSP00000389877.1:p.Leu164Phe
ENST00000459681.3:n.175A>T
ENST00000495244.7:n.503A>T
ENST00000611510.5:c.402A>T	ENSP00000481236.3:p.Leu134Phe
ENST00000616907.2:c.492A>T	ENSP00000482701.2:p.Leu164Phe
ENST00000642207.1:c.231A>T
ENST00000642454.1:c.402A>T	ENSP00000494221.1:p.Leu134Phe
ENST00000642721.1:c.492A>T	ENSP00000495650.1:p.Leu164Phe
ENST00000642995.1:c.375A>T	ENSP00000493499.1:p.Leu125Phe
ENST00000643159.1:c.402A>T	ENSP00000495587.1:p.Leu134Phe
ENST00000643215.1:c.362A>T
ENST00000643405.1:c.140A>T
ENST00000643529.1:c.5A>T
ENST00000643682.1:c.492A>T	ENSP00000493655.1:p.Leu164Phe
ENST00000643774.1:c.456A>T	ENSP00000495482.1:p.Leu152Phe
ENST00000644034.1:c.65-4611A>T	ENSP00000495456.1:n.65-4611A>T
ENST00000644183.1:c.382A>T	ENSP00000495657.1:n.382A>T
ENST00000644297.1:c.*350A>T	ENSP00000495519.1:n.*350A>T
ENST00000644420.1:n.518A>T
ENST00000644425.1:c.443A>T
ENST00000644518.1:c.*359A>T	ENSP00000495793.1:n.*359A>T
ENST00000645188.1:c.483A>T	ENSP00000496224.1:p.Leu161Phe
ENST00000645333.1:n.424A>T
ENST00000645370.1:c.327A>T	ENSP00000494019.1:p.Leu109Phe
ENST00000645618.1:c.402A>T	ENSP00000495429.1:p.Leu134Phe
ENST00000645712.1:n.516A>T
ENST00000645955.1:c.492A>T	ENSP00000495755.1:p.Leu164Phe
ENST00000645990.1:c.492A>T	ENSP00000496571.1:p.Leu164Phe
ENST00000646092.1:c.456A>T	ENSP00000496293.1:p.Leu152Phe
ENST00000646279.1:n.789A>T
ENST00000646339.1:c.154A>T	ENSP00000495773.1:n.154A>T
ENST00000646709.1:c.402A>T	ENSP00000495278.1:p.Leu134Phe
ENST00000646731.1:c.483A>T	ENSP00000493828.1:p.Leu161Phe
ENST00000646960.1:c.492A>T	ENSP00000496481.1:p.Leu164Phe
ENST00000646964.1:n.1131A>T
ENST00000647387.1:c.402A>T	ENSP00000495487.1:p.Leu134Phe
ENST00000336617.7:c.492A>T	ENSP00000337623.2:p.Leu164Phe
ENST00000422660.5:c.492A>T	ENSP00000389877.1:p.Leu164Phe
ENST00000495244.6:n.503A>T
ENST00000611510.4:c.492A>T	ENSP00000481236.2:p.Leu164Phe
ENST00000613449.4:n.2554A>T
ENST00000621641.1:n.80A>T
NM_001142279.2:c.492A>T , LRG_279t1:c.492A>T	NP_001135751.1:p.Leu164Phe
NM_024570.3:c.492A>T , LRG_279t2:c.492A>T	NP_078846.2:p.Leu164Phe
XM_005266524.2:c.492A>T	XP_005266581.1:p.Leu164Phe
XM_005266525.2:c.492A>T	XP_005266582.1:p.Leu164Phe
XM_006719867.2:c.474A>T	XP_006719930.1:p.Leu158Phe
XM_011535229.1:c.492A>T	XP_011533531.1:p.Leu164Phe
XM_011535230.1:c.492A>T	XP_011533532.1:p.Leu164Phe
XM_011535231.1:c.492A>T	XP_011533533.1:p.Leu164Phe
XM_011535232.1:c.330A>T	XP_011533534.1:p.Leu110Phe
XM_011535233.1:c.84A>T	XP_011533535.1:p.Leu28Phe
XM_011535234.1:c.492A>T	XP_011533536.1:p.Leu164Phe
XM_006719867.4:c.474A>T	XP_006719930.1:p.Leu158Phe
XM_011535230.2:c.492A>T	XP_011533532.1:p.Leu164Phe
XM_011535231.2:c.492A>T	XP_011533533.1:p.Leu164Phe
XM_011535233.2:c.84A>T	XP_011533535.1:p.Leu28Phe
XM_017020747.1:c.492A>T	XP_016876236.1:p.Leu164Phe
NM_024570.4:c.492A>T MANE Select	NP_078846.2:p.Leu164Phe