Canonical Allele Identifier: CA6985646

Gene: RNASEH2B

Linked Data

• ClinVar Variation Id: 2750103
• ClinVar RCV Id: RCV003495657
• dbSNP Id: rs751915137
• ExAC: 13:51522121 A / G
• gnomAD v2: 13-51522121-A-G
• gnomAD v3: 13-50947985-A-G
• gnomAD v4: 13-50947985-A-G
• MyVariant Identifiers: chr13:g.51522121A>G (hg19) ; chr13:g.50947985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50947985A>G , CM000675.2:g.50947985A>G	GRCh38
NC_000013.10:g.51522121A>G , CM000675.1:g.51522121A>G	GRCh37
NC_000013.9:g.50420122A>G	NCBI36
NG_009055.1:g.43230A>G , LRG_279:g.43230A>G

Transcript Alleles

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