Canonical Allele Identifier: CA388259924

Gene: RNASEH2B

Linked Data

• MyVariant Identifiers: chr13:g.51522195A>C (hg19) ; chr13:g.50948059A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50948059A>C , CM000675.2:g.50948059A>C	GRCh38
NC_000013.10:g.51522195A>C , CM000675.1:g.51522195A>C	GRCh37
NC_000013.9:g.50420196A>C	NCBI36
NG_009055.1:g.43304A>C , LRG_279:g.43304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.689A>C MANE Select	ENSP00000337623.2:p.Lys230Thr
ENST00000422660.6:c.689A>C	ENSP00000389877.1:p.Lys230Thr
ENST00000459681.3:n.372A>C
ENST00000495244.7:n.700A>C
ENST00000611510.5:c.599A>C	ENSP00000481236.3:p.Lys200Thr
ENST00000616907.2:c.689A>C	ENSP00000482701.2:p.Lys230Thr
ENST00000642207.1:c.428A>C
ENST00000642454.1:c.599A>C	ENSP00000494221.1:p.Lys200Thr
ENST00000642721.1:c.689A>C	ENSP00000495650.1:p.Lys230Thr
ENST00000642995.1:c.572A>C	ENSP00000493499.1:p.Lys191Thr
ENST00000643159.1:c.599A>C	ENSP00000495587.1:p.Lys200Thr
ENST00000643215.1:c.559A>C
ENST00000643405.1:c.337A>C
ENST00000643529.1:c.202A>C
ENST00000643682.1:c.689A>C	ENSP00000493655.1:p.Lys230Thr
ENST00000643774.1:c.653A>C	ENSP00000495482.1:p.Lys218Thr
ENST00000644034.1:c.137A>C	ENSP00000495456.1:p.Lys46Thr
ENST00000644183.1:c.579A>C	ENSP00000495657.1:n.579A>C
ENST00000644297.1:c.*547A>C	ENSP00000495519.1:n.*547A>C
ENST00000644420.1:n.715A>C
ENST00000644425.1:c.640A>C
ENST00000644518.1:c.*556A>C	ENSP00000495793.1:n.*556A>C
ENST00000645188.1:c.680A>C	ENSP00000496224.1:p.Lys227Thr
ENST00000645201.1:n.86A>C
ENST00000645333.1:n.621A>C
ENST00000645370.1:c.524A>C	ENSP00000494019.1:p.Lys175Thr
ENST00000645618.1:c.599A>C	ENSP00000495429.1:p.Lys200Thr
ENST00000645712.1:n.713A>C
ENST00000645912.1:c.27A>C
ENST00000645955.1:c.689A>C	ENSP00000495755.1:p.Lys230Thr
ENST00000645990.1:c.689A>C	ENSP00000496571.1:p.Lys230Thr
ENST00000646092.1:c.653A>C	ENSP00000496293.1:p.Lys218Thr
ENST00000646279.1:n.986A>C
ENST00000646339.1:c.351A>C	ENSP00000495773.1:n.351A>C
ENST00000646709.1:c.599A>C	ENSP00000495278.1:p.Lys200Thr
ENST00000646731.1:c.680A>C	ENSP00000493828.1:p.Lys227Thr
ENST00000646960.1:c.689A>C	ENSP00000496481.1:p.Lys230Thr
ENST00000646964.1:n.1328A>C
ENST00000647387.1:c.599A>C	ENSP00000495487.1:p.Lys200Thr
ENST00000336617.7:c.689A>C	ENSP00000337623.2:p.Lys230Thr
ENST00000422660.5:c.689A>C	ENSP00000389877.1:p.Lys230Thr
ENST00000495244.6:n.700A>C
ENST00000611510.4:c.689A>C	ENSP00000481236.2:p.Lys230Thr
ENST00000613449.4:n.2751A>C
ENST00000616907.1:c.72A>C
ENST00000621641.1:n.277A>C
NM_001142279.2:c.689A>C , LRG_279t1:c.689A>C	NP_001135751.1:p.Lys230Thr
NM_024570.3:c.689A>C , LRG_279t2:c.689A>C	NP_078846.2:p.Lys230Thr
XM_005266524.2:c.689A>C	XP_005266581.1:p.Lys230Thr
XM_005266525.2:c.689A>C	XP_005266582.1:p.Lys230Thr
XM_006719867.2:c.671A>C	XP_006719930.1:p.Lys224Thr
XM_011535229.1:c.689A>C	XP_011533531.1:p.Lys230Thr
XM_011535230.1:c.689A>C	XP_011533532.1:p.Lys230Thr
XM_011535231.1:c.689A>C	XP_011533533.1:p.Lys230Thr
XM_011535232.1:c.527A>C	XP_011533534.1:p.Lys176Thr
XM_011535233.1:c.281A>C	XP_011533535.1:p.Lys94Thr
XM_006719867.4:c.671A>C	XP_006719930.1:p.Lys224Thr
XM_011535230.2:c.689A>C	XP_011533532.1:p.Lys230Thr
XM_011535231.2:c.689A>C	XP_011533533.1:p.Lys230Thr
XM_011535233.2:c.281A>C	XP_011533535.1:p.Lys94Thr
XM_017020747.1:c.689A>C	XP_016876236.1:p.Lys230Thr
NM_024570.4:c.689A>C MANE Select	NP_078846.2:p.Lys230Thr