Canonical Allele Identifier: CA6985644

Gene: RNASEH2B

Linked Data

• ClinVar Variation Id: 2859732
• ClinVar RCV Id: RCV003599933
• dbSNP Id: rs201473333
• ExAC: 13:51522112 G / C
• gnomAD v2: 13-51522112-G-C
• gnomAD v3: 13-50947976-G-C
• gnomAD v4: 13-50947976-G-C
• MyVariant Identifiers: chr13:g.51522112G>C (hg19) ; chr13:g.50947976G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50947976G>C , CM000675.2:g.50947976G>C	GRCh38
NC_000013.10:g.51522112G>C , CM000675.1:g.51522112G>C	GRCh37
NC_000013.9:g.50420113G>C	NCBI36
NG_009055.1:g.43221G>C , LRG_279:g.43221G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336617.8:c.617-11G>C MANE Select	ENSP00000337623.2:n.617-11G>C
ENST00000422660.6:c.617-11G>C	ENSP00000389877.1:n.617-11G>C
ENST00000459681.3:n.300-11G>C
ENST00000495244.7:n.628-11G>C
ENST00000611510.5:c.527-11G>C	ENSP00000481236.3:n.527-11G>C
ENST00000616907.2:c.617-11G>C	ENSP00000482701.2:n.617-11G>C
ENST00000642207.1:c.356-11G>C
ENST00000642454.1:c.527-11G>C	ENSP00000494221.1:n.527-11G>C
ENST00000642721.1:c.617-11G>C	ENSP00000495650.1:n.617-11G>C
ENST00000642995.1:c.500-11G>C	ENSP00000493499.1:n.500-11G>C
ENST00000643159.1:c.527-11G>C	ENSP00000495587.1:n.527-11G>C
ENST00000643215.1:c.487-11G>C
ENST00000643405.1:c.265-11G>C
ENST00000643529.1:c.130-11G>C
ENST00000643682.1:c.617-11G>C	ENSP00000493655.1:n.617-11G>C
ENST00000643774.1:c.581-11G>C	ENSP00000495482.1:n.581-11G>C
ENST00000644034.1:c.65-11G>C	ENSP00000495456.1:n.65-11G>C
ENST00000644183.1:c.507-11G>C	ENSP00000495657.1:n.507-11G>C
ENST00000644297.1:c.*475-11G>C	ENSP00000495519.1:n.*475-11G>C
ENST00000644420.1:n.643-11G>C
ENST00000644425.1:c.568-11G>C
ENST00000644518.1:c.*484-11G>C	ENSP00000495793.1:n.*484-11G>C
ENST00000645188.1:c.608-11G>C	ENSP00000496224.1:n.608-11G>C
ENST00000645201.1:n.14-11G>C
ENST00000645333.1:n.549-11G>C
ENST00000645370.1:c.452-11G>C	ENSP00000494019.1:n.452-11G>C
ENST00000645618.1:c.527-11G>C	ENSP00000495429.1:n.527-11G>C
ENST00000645712.1:n.641-11G>C
ENST00000645955.1:c.617-11G>C	ENSP00000495755.1:n.617-11G>C
ENST00000645990.1:c.617-11G>C	ENSP00000496571.1:n.617-11G>C
ENST00000646092.1:c.581-11G>C	ENSP00000496293.1:n.581-11G>C
ENST00000646279.1:n.914-11G>C
ENST00000646339.1:c.279-11G>C	ENSP00000495773.1:n.279-11G>C
ENST00000646709.1:c.527-11G>C	ENSP00000495278.1:n.527-11G>C
ENST00000646731.1:c.608-11G>C	ENSP00000493828.1:n.608-11G>C
ENST00000646960.1:c.617-11G>C	ENSP00000496481.1:n.617-11G>C
ENST00000646964.1:n.1256-11G>C
ENST00000647387.1:c.527-11G>C	ENSP00000495487.1:n.527-11G>C
ENST00000336617.7:c.617-11G>C	ENSP00000337623.2:n.617-11G>C
ENST00000422660.5:c.617-11G>C	ENSP00000389877.1:n.617-11G>C
ENST00000495244.6:n.628-11G>C
ENST00000611510.4:c.617-11G>C	ENSP00000481236.2:n.617-11G>C
ENST00000613449.4:n.2679-11G>C
ENST00000621641.1:n.205-11G>C
NM_001142279.2:c.617-11G>C , LRG_279t1:c.617-11G>C	NP_001135751.1:n.617-11G>C
NM_024570.3:c.617-11G>C , LRG_279t2:c.617-11G>C	NP_078846.2:n.617-11G>C
XM_005266524.2:c.617-11G>C	XP_005266581.1:n.617-11G>C
XM_005266525.2:c.617-11G>C	XP_005266582.1:n.617-11G>C
XM_006719867.2:c.599-11G>C	XP_006719930.1:n.599-11G>C
XM_011535229.1:c.617-11G>C	XP_011533531.1:n.617-11G>C
XM_011535230.1:c.617-11G>C	XP_011533532.1:n.617-11G>C
XM_011535231.1:c.617-11G>C	XP_011533533.1:n.617-11G>C
XM_011535232.1:c.455-11G>C	XP_011533534.1:n.455-11G>C
XM_011535233.1:c.209-11G>C	XP_011533535.1:n.209-11G>C
XM_006719867.4:c.599-11G>C	XP_006719930.1:n.599-11G>C
XM_011535230.2:c.617-11G>C	XP_011533532.1:n.617-11G>C
XM_011535231.2:c.617-11G>C	XP_011533533.1:n.617-11G>C
XM_011535233.2:c.209-11G>C	XP_011533535.1:n.209-11G>C
XM_017020747.1:c.617-11G>C	XP_016876236.1:n.617-11G>C
NM_024570.4:c.617-11G>C MANE Select	NP_078846.2:n.617-11G>C