Canonical Allele Identifier: CA249998008
Gene: RNASEH2B HGNC NCBI

Linked Data

ClinVar Variation Id: 650490
ClinVar RCV Id: RCV000805649
dbSNP Id: rs77301371
gnomAD v2: 13-51517531-G-A
gnomAD v3: 13-50943395-G-A
gnomAD v4: 13-50943395-G-A
MyVariant Identifiers: chr13:g.51517531G>A (hg19) chr13:g.50943395G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50943395G>A , CM000675.2:g.50943395G>A GRCh38
NC_000013.10:g.51517531G>A , CM000675.1:g.51517531G>A GRCh37
NC_000013.9:g.50415532G>A NCBI36
NG_009055.1:g.38640G>A , LRG_279:g.38640G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336617.8:c.510+1G>A MANE Select ENSP00000337623.2:n.510+1G>A
ENST00000422660.6:c.510+1G>A ENSP00000389877.1:n.510+1G>A
ENST00000459681.3:n.193+1G>A
ENST00000495244.7:n.521+1G>A
ENST00000611510.5:c.420+1G>A ENSP00000481236.3:n.420+1G>A
ENST00000616907.2:c.510+1G>A ENSP00000482701.2:n.510+1G>A
ENST00000642207.1:c.249+1G>A
ENST00000642454.1:c.420+1G>A ENSP00000494221.1:n.420+1G>A
ENST00000642721.1:c.510+1G>A ENSP00000495650.1:n.510+1G>A
ENST00000642995.1:c.393+1G>A ENSP00000493499.1:n.393+1G>A
ENST00000643159.1:c.420+1G>A ENSP00000495587.1:n.420+1G>A
ENST00000643215.1:c.380+1G>A
ENST00000643405.1:c.158+1G>A
ENST00000643529.1:c.23+1G>A
ENST00000643682.1:c.510+1G>A ENSP00000493655.1:n.510+1G>A
ENST00000643774.1:c.474+1G>A ENSP00000495482.1:n.474+1G>A
ENST00000644034.1:c.65-4592G>A ENSP00000495456.1:n.65-4592G>A
ENST00000644183.1:c.400+1G>A ENSP00000495657.1:n.400+1G>A
ENST00000644297.1:c.*368+1G>A ENSP00000495519.1:n.*368+1G>A
ENST00000644420.1:n.536+1G>A
ENST00000644425.1:c.461+1G>A
ENST00000644518.1:c.*377+1G>A ENSP00000495793.1:n.*377+1G>A
ENST00000645188.1:c.501+1G>A ENSP00000496224.1:n.501+1G>A
ENST00000645333.1:n.442+1G>A
ENST00000645370.1:c.345+1G>A ENSP00000494019.1:n.345+1G>A
ENST00000645618.1:c.420+1G>A ENSP00000495429.1:n.420+1G>A
ENST00000645712.1:n.534+1G>A
ENST00000645955.1:c.510+1G>A ENSP00000495755.1:n.510+1G>A
ENST00000645990.1:c.510+1G>A ENSP00000496571.1:n.510+1G>A
ENST00000646092.1:c.474+1G>A ENSP00000496293.1:n.474+1G>A
ENST00000646279.1:n.807+1G>A
ENST00000646339.1:c.172+1G>A ENSP00000495773.1:n.172+1G>A
ENST00000646709.1:c.420+1G>A ENSP00000495278.1:n.420+1G>A
ENST00000646731.1:c.501+1G>A ENSP00000493828.1:n.501+1G>A
ENST00000646960.1:c.510+1G>A ENSP00000496481.1:n.510+1G>A
ENST00000646964.1:n.1149+1G>A
ENST00000647387.1:c.420+1G>A ENSP00000495487.1:n.420+1G>A
ENST00000336617.7:c.510+1G>A ENSP00000337623.2:n.510+1G>A
ENST00000422660.5:c.510+1G>A ENSP00000389877.1:n.510+1G>A
ENST00000495244.6:n.521+1G>A
ENST00000611510.4:c.510+1G>A ENSP00000481236.2:n.510+1G>A
ENST00000613449.4:n.2572+1G>A
ENST00000621641.1:n.98+1G>A
NM_001142279.2:c.510+1G>A , LRG_279t1:c.510+1G>A NP_001135751.1:n.510+1G>A
NM_024570.3:c.510+1G>A , LRG_279t2:c.510+1G>A NP_078846.2:n.510+1G>A
XM_005266524.2:c.510+1G>A XP_005266581.1:n.510+1G>A
XM_005266525.2:c.510+1G>A XP_005266582.1:n.510+1G>A
XM_006719867.2:c.492+1G>A XP_006719930.1:n.492+1G>A
XM_011535229.1:c.510+1G>A XP_011533531.1:n.510+1G>A
XM_011535230.1:c.510+1G>A XP_011533532.1:n.510+1G>A
XM_011535231.1:c.510+1G>A XP_011533533.1:n.510+1G>A
XM_011535232.1:c.348+1G>A XP_011533534.1:n.348+1G>A
XM_011535233.1:c.102+1G>A XP_011533535.1:n.102+1G>A
XM_011535234.1:c.509+2G>A XP_011533536.1:n.509+2G>A
XM_006719867.4:c.492+1G>A XP_006719930.1:n.492+1G>A
XM_011535230.2:c.510+1G>A XP_011533532.1:n.510+1G>A
XM_011535231.2:c.510+1G>A XP_011533533.1:n.510+1G>A
XM_011535233.2:c.102+1G>A XP_011533535.1:n.102+1G>A
XM_017020747.1:c.510+1G>A XP_016876236.1:n.510+1G>A
NM_024570.4:c.510+1G>A MANE Select NP_078846.2:n.510+1G>A
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