Canonical Allele Identifier: CA483839491
Gene: RNASEH2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.51504826T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50930690T>A , CM000675.2:g.50930690T>A GRCh38
NC_000013.10:g.51504826T>A , CM000675.1:g.51504826T>A GRCh37
NC_000013.9:g.50402827T>A NCBI36
NG_009055.1:g.25935T>A , LRG_279:g.25935T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000336617.8:c.252T>A MANE Select ENSP00000337623.2:p.Leu84=
ENST00000422660.6:c.252T>A ENSP00000389877.1:p.Leu84=
ENST00000459681.3:n.50T>A
ENST00000495244.7:n.263T>A
ENST00000611510.5:c.162T>A ENSP00000481236.3:p.Leu54=
ENST00000616907.2:c.252T>A ENSP00000482701.2:p.Leu84=
ENST00000637648.2:c.162T>A ENSP00000490077.2:p.Leu54=
ENST00000642207.1:c.106T>A
ENST00000642454.1:c.162T>A ENSP00000494221.1:p.Leu54=
ENST00000642721.1:c.252T>A ENSP00000495650.1:p.Leu84=
ENST00000642995.1:c.144T>A ENSP00000493499.1:p.Leu48=
ENST00000643159.1:c.162T>A ENSP00000495587.1:p.Leu54=
ENST00000643215.1:c.122T>A
ENST00000643462.1:c.*67T>A ENSP00000496130.1:n.*67T>A
ENST00000643682.1:c.252T>A ENSP00000493655.1:p.Leu84=
ENST00000643774.1:c.216T>A ENSP00000495482.1:p.Leu72=
ENST00000644034.1:c.65-17297T>A ENSP00000495456.1:n.65-17297T>A
ENST00000644183.1:c.211+1108T>A ENSP00000495657.1:n.211+1108T>A
ENST00000644297.1:c.*119T>A ENSP00000495519.1:n.*119T>A
ENST00000644420.1:n.278T>A
ENST00000644425.1:c.203T>A
ENST00000644518.1:c.*119T>A ENSP00000495793.1:n.*119T>A
ENST00000645188.1:c.252T>A ENSP00000496224.1:p.Leu84=
ENST00000645333.1:n.184T>A
ENST00000645370.1:c.87T>A ENSP00000494019.1:p.Leu29=
ENST00000645549.1:n.516T>A
ENST00000645618.1:c.162T>A ENSP00000495429.1:p.Leu54=
ENST00000645712.1:n.285T>A
ENST00000645955.1:c.252T>A ENSP00000495755.1:p.Leu84=
ENST00000645990.1:c.252T>A ENSP00000496571.1:p.Leu84=
ENST00000646092.1:c.216T>A ENSP00000496293.1:p.Leu72=
ENST00000646279.1:n.549T>A
ENST00000646709.1:c.162T>A ENSP00000495278.1:p.Leu54=
ENST00000646731.1:c.252T>A ENSP00000493828.1:p.Leu84=
ENST00000646960.1:c.252T>A ENSP00000496481.1:p.Leu84=
ENST00000647387.1:c.162T>A ENSP00000495487.1:p.Leu54=
ENST00000336617.7:c.252T>A ENSP00000337623.2:p.Leu84=
ENST00000422660.5:c.252T>A ENSP00000389877.1:p.Leu84=
ENST00000459681.2:n.50T>A
ENST00000495244.6:n.263T>A
ENST00000611510.4:c.252T>A ENSP00000481236.2:p.Leu84=
NM_001142279.2:c.252T>A , LRG_279t1:c.252T>A NP_001135751.1:p.Leu84=
NM_024570.3:c.252T>A , LRG_279t2:c.252T>A NP_078846.2:p.Leu84=
XM_005266524.2:c.252T>A XP_005266581.1:p.Leu84=
XM_005266525.2:c.252T>A XP_005266582.1:p.Leu84=
XM_006719867.2:c.234T>A XP_006719930.1:p.Leu78=
XM_011535229.1:c.252T>A XP_011533531.1:p.Leu84=
XM_011535230.1:c.252T>A XP_011533532.1:p.Leu84=
XM_011535231.1:c.252T>A XP_011533533.1:p.Leu84=
XM_011535232.1:c.90T>A XP_011533534.1:p.Leu30=
XM_011535233.1:c.-362T>A XP_011533535.1:n.-362T>A
XM_011535234.1:c.252T>A XP_011533536.1:p.Leu84=
XM_006719867.4:c.234T>A XP_006719930.1:p.Leu78=
XM_011535230.2:c.252T>A XP_011533532.1:p.Leu84=
XM_011535231.2:c.252T>A XP_011533533.1:p.Leu84=
XM_011535233.2:c.-362T>A XP_011533535.1:n.-362T>A
XM_017020747.1:c.252T>A XP_016876236.1:p.Leu84=
NM_024570.4:c.252T>A MANE Select NP_078846.2:p.Leu84=