Canonical Allele Identifier: CA388259887

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50948042-A-C
• MyVariant Identifiers: chr13:g.51522178A>C (hg19) ; chr13:g.50948042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50948042A>C , CM000675.2:g.50948042A>C	GRCh38
NC_000013.10:g.51522178A>C , CM000675.1:g.51522178A>C	GRCh37
NC_000013.9:g.50420179A>C	NCBI36
NG_009055.1:g.43287A>C , LRG_279:g.43287A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.672A>C MANE Select	ENSP00000337623.2:p.Leu224Phe
ENST00000422660.6:c.672A>C	ENSP00000389877.1:p.Leu224Phe
ENST00000459681.3:n.355A>C
ENST00000495244.7:n.683A>C
ENST00000611510.5:c.582A>C	ENSP00000481236.3:p.Leu194Phe
ENST00000616907.2:c.672A>C	ENSP00000482701.2:p.Leu224Phe
ENST00000642207.1:c.411A>C
ENST00000642454.1:c.582A>C	ENSP00000494221.1:p.Leu194Phe
ENST00000642721.1:c.672A>C	ENSP00000495650.1:p.Leu224Phe
ENST00000642995.1:c.555A>C	ENSP00000493499.1:p.Leu185Phe
ENST00000643159.1:c.582A>C	ENSP00000495587.1:p.Leu194Phe
ENST00000643215.1:c.542A>C
ENST00000643405.1:c.320A>C
ENST00000643529.1:c.185A>C
ENST00000643682.1:c.672A>C	ENSP00000493655.1:p.Leu224Phe
ENST00000643774.1:c.636A>C	ENSP00000495482.1:p.Leu212Phe
ENST00000644034.1:c.120A>C	ENSP00000495456.1:p.Leu40Phe
ENST00000644183.1:c.562A>C	ENSP00000495657.1:n.562A>C
ENST00000644297.1:c.*530A>C	ENSP00000495519.1:n.*530A>C
ENST00000644420.1:n.698A>C
ENST00000644425.1:c.623A>C
ENST00000644518.1:c.*539A>C	ENSP00000495793.1:n.*539A>C
ENST00000645188.1:c.663A>C	ENSP00000496224.1:p.Leu221Phe
ENST00000645201.1:n.69A>C
ENST00000645333.1:n.604A>C
ENST00000645370.1:c.507A>C	ENSP00000494019.1:p.Leu169Phe
ENST00000645618.1:c.582A>C	ENSP00000495429.1:p.Leu194Phe
ENST00000645712.1:n.696A>C
ENST00000645912.1:c.10A>C
ENST00000645955.1:c.672A>C	ENSP00000495755.1:p.Leu224Phe
ENST00000645990.1:c.672A>C	ENSP00000496571.1:p.Leu224Phe
ENST00000646092.1:c.636A>C	ENSP00000496293.1:p.Leu212Phe
ENST00000646279.1:n.969A>C
ENST00000646339.1:c.334A>C	ENSP00000495773.1:n.334A>C
ENST00000646709.1:c.582A>C	ENSP00000495278.1:p.Leu194Phe
ENST00000646731.1:c.663A>C	ENSP00000493828.1:p.Leu221Phe
ENST00000646960.1:c.672A>C	ENSP00000496481.1:p.Leu224Phe
ENST00000646964.1:n.1311A>C
ENST00000647387.1:c.582A>C	ENSP00000495487.1:p.Leu194Phe
ENST00000336617.7:c.672A>C	ENSP00000337623.2:p.Leu224Phe
ENST00000422660.5:c.672A>C	ENSP00000389877.1:p.Leu224Phe
ENST00000495244.6:n.683A>C
ENST00000611510.4:c.672A>C	ENSP00000481236.2:p.Leu224Phe
ENST00000613449.4:n.2734A>C
ENST00000616907.1:c.55A>C
ENST00000621641.1:n.260A>C
NM_001142279.2:c.672A>C , LRG_279t1:c.672A>C	NP_001135751.1:p.Leu224Phe
NM_024570.3:c.672A>C , LRG_279t2:c.672A>C	NP_078846.2:p.Leu224Phe
XM_005266524.2:c.672A>C	XP_005266581.1:p.Leu224Phe
XM_005266525.2:c.672A>C	XP_005266582.1:p.Leu224Phe
XM_006719867.2:c.654A>C	XP_006719930.1:p.Leu218Phe
XM_011535229.1:c.672A>C	XP_011533531.1:p.Leu224Phe
XM_011535230.1:c.672A>C	XP_011533532.1:p.Leu224Phe
XM_011535231.1:c.672A>C	XP_011533533.1:p.Leu224Phe
XM_011535232.1:c.510A>C	XP_011533534.1:p.Leu170Phe
XM_011535233.1:c.264A>C	XP_011533535.1:p.Leu88Phe
XM_006719867.4:c.654A>C	XP_006719930.1:p.Leu218Phe
XM_011535230.2:c.672A>C	XP_011533532.1:p.Leu224Phe
XM_011535231.2:c.672A>C	XP_011533533.1:p.Leu224Phe
XM_011535233.2:c.264A>C	XP_011533535.1:p.Leu88Phe
XM_017020747.1:c.672A>C	XP_016876236.1:p.Leu224Phe
NM_024570.4:c.672A>C MANE Select	NP_078846.2:p.Leu224Phe