Canonical Allele Identifier: CA388259914

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50948054-A-C
• MyVariant Identifiers: chr13:g.51522190A>C (hg19) ; chr13:g.50948054A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50948054A>C , CM000675.2:g.50948054A>C	GRCh38
NC_000013.10:g.51522190A>C , CM000675.1:g.51522190A>C	GRCh37
NC_000013.9:g.50420191A>C	NCBI36
NG_009055.1:g.43299A>C , LRG_279:g.43299A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.684A>C MANE Select	ENSP00000337623.2:p.Leu228Phe
ENST00000422660.6:c.684A>C	ENSP00000389877.1:p.Leu228Phe
ENST00000459681.3:n.367A>C
ENST00000495244.7:n.695A>C
ENST00000611510.5:c.594A>C	ENSP00000481236.3:p.Leu198Phe
ENST00000616907.2:c.684A>C	ENSP00000482701.2:p.Leu228Phe
ENST00000642207.1:c.423A>C
ENST00000642454.1:c.594A>C	ENSP00000494221.1:p.Leu198Phe
ENST00000642721.1:c.684A>C	ENSP00000495650.1:p.Leu228Phe
ENST00000642995.1:c.567A>C	ENSP00000493499.1:p.Leu189Phe
ENST00000643159.1:c.594A>C	ENSP00000495587.1:p.Leu198Phe
ENST00000643215.1:c.554A>C
ENST00000643405.1:c.332A>C
ENST00000643529.1:c.197A>C
ENST00000643682.1:c.684A>C	ENSP00000493655.1:p.Leu228Phe
ENST00000643774.1:c.648A>C	ENSP00000495482.1:p.Leu216Phe
ENST00000644034.1:c.132A>C	ENSP00000495456.1:p.Leu44Phe
ENST00000644183.1:c.574A>C	ENSP00000495657.1:n.574A>C
ENST00000644297.1:c.*542A>C	ENSP00000495519.1:n.*542A>C
ENST00000644420.1:n.710A>C
ENST00000644425.1:c.635A>C
ENST00000644518.1:c.*551A>C	ENSP00000495793.1:n.*551A>C
ENST00000645188.1:c.675A>C	ENSP00000496224.1:p.Leu225Phe
ENST00000645201.1:n.81A>C
ENST00000645333.1:n.616A>C
ENST00000645370.1:c.519A>C	ENSP00000494019.1:p.Leu173Phe
ENST00000645618.1:c.594A>C	ENSP00000495429.1:p.Leu198Phe
ENST00000645712.1:n.708A>C
ENST00000645912.1:c.22A>C
ENST00000645955.1:c.684A>C	ENSP00000495755.1:p.Leu228Phe
ENST00000645990.1:c.684A>C	ENSP00000496571.1:p.Leu228Phe
ENST00000646092.1:c.648A>C	ENSP00000496293.1:p.Leu216Phe
ENST00000646279.1:n.981A>C
ENST00000646339.1:c.346A>C	ENSP00000495773.1:n.346A>C
ENST00000646709.1:c.594A>C	ENSP00000495278.1:p.Leu198Phe
ENST00000646731.1:c.675A>C	ENSP00000493828.1:p.Leu225Phe
ENST00000646960.1:c.684A>C	ENSP00000496481.1:p.Leu228Phe
ENST00000646964.1:n.1323A>C
ENST00000647387.1:c.594A>C	ENSP00000495487.1:p.Leu198Phe
ENST00000336617.7:c.684A>C	ENSP00000337623.2:p.Leu228Phe
ENST00000422660.5:c.684A>C	ENSP00000389877.1:p.Leu228Phe
ENST00000495244.6:n.695A>C
ENST00000611510.4:c.684A>C	ENSP00000481236.2:p.Leu228Phe
ENST00000613449.4:n.2746A>C
ENST00000616907.1:c.67A>C
ENST00000621641.1:n.272A>C
NM_001142279.2:c.684A>C , LRG_279t1:c.684A>C	NP_001135751.1:p.Leu228Phe
NM_024570.3:c.684A>C , LRG_279t2:c.684A>C	NP_078846.2:p.Leu228Phe
XM_005266524.2:c.684A>C	XP_005266581.1:p.Leu228Phe
XM_005266525.2:c.684A>C	XP_005266582.1:p.Leu228Phe
XM_006719867.2:c.666A>C	XP_006719930.1:p.Leu222Phe
XM_011535229.1:c.684A>C	XP_011533531.1:p.Leu228Phe
XM_011535230.1:c.684A>C	XP_011533532.1:p.Leu228Phe
XM_011535231.1:c.684A>C	XP_011533533.1:p.Leu228Phe
XM_011535232.1:c.522A>C	XP_011533534.1:p.Leu174Phe
XM_011535233.1:c.276A>C	XP_011533535.1:p.Leu92Phe
XM_006719867.4:c.666A>C	XP_006719930.1:p.Leu222Phe
XM_011535230.2:c.684A>C	XP_011533532.1:p.Leu228Phe
XM_011535231.2:c.684A>C	XP_011533533.1:p.Leu228Phe
XM_011535233.2:c.276A>C	XP_011533535.1:p.Leu92Phe
XM_017020747.1:c.684A>C	XP_016876236.1:p.Leu228Phe
NM_024570.4:c.684A>C MANE Select	NP_078846.2:p.Leu228Phe