Canonical Allele Identifier: CA388258964

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50930704-C-T
• MyVariant Identifiers: chr13:g.51504840C>T (hg19) ; chr13:g.50930704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50930704C>T , CM000675.2:g.50930704C>T	GRCh38
NC_000013.10:g.51504840C>T , CM000675.1:g.51504840C>T	GRCh37
NC_000013.9:g.50402841C>T	NCBI36
NG_009055.1:g.25949C>T , LRG_279:g.25949C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336617.8:c.266C>T MANE Select	ENSP00000337623.2:p.Thr89Ile
ENST00000422660.6:c.266C>T	ENSP00000389877.1:p.Thr89Ile
ENST00000459681.3:n.64C>T
ENST00000495244.7:n.277C>T
ENST00000611510.5:c.176C>T	ENSP00000481236.3:p.Thr59Ile
ENST00000616907.2:c.266C>T	ENSP00000482701.2:p.Thr89Ile
ENST00000637648.2:c.176C>T	ENSP00000490077.2:p.Thr59Ile
ENST00000642207.1:c.120C>T
ENST00000642454.1:c.176C>T	ENSP00000494221.1:p.Thr59Ile
ENST00000642721.1:c.266C>T	ENSP00000495650.1:p.Thr89Ile
ENST00000642995.1:c.158C>T	ENSP00000493499.1:p.Thr53Ile
ENST00000643159.1:c.176C>T	ENSP00000495587.1:p.Thr59Ile
ENST00000643215.1:c.136C>T
ENST00000643462.1:c.*81C>T	ENSP00000496130.1:n.*81C>T
ENST00000643682.1:c.266C>T	ENSP00000493655.1:p.Thr89Ile
ENST00000643774.1:c.230C>T	ENSP00000495482.1:p.Thr77Ile
ENST00000644034.1:c.65-17283C>T	ENSP00000495456.1:n.65-17283C>T
ENST00000644183.1:c.211+1122C>T	ENSP00000495657.1:n.211+1122C>T
ENST00000644297.1:c.*133C>T	ENSP00000495519.1:n.*133C>T
ENST00000644420.1:n.292C>T
ENST00000644425.1:c.217C>T
ENST00000644518.1:c.*133C>T	ENSP00000495793.1:n.*133C>T
ENST00000645188.1:c.266C>T	ENSP00000496224.1:p.Thr89Ile
ENST00000645333.1:n.198C>T
ENST00000645370.1:c.101C>T	ENSP00000494019.1:p.Thr34Ile
ENST00000645549.1:n.530C>T
ENST00000645618.1:c.176C>T	ENSP00000495429.1:p.Thr59Ile
ENST00000645712.1:n.299C>T
ENST00000645955.1:c.266C>T	ENSP00000495755.1:p.Thr89Ile
ENST00000645990.1:c.266C>T	ENSP00000496571.1:p.Thr89Ile
ENST00000646092.1:c.230C>T	ENSP00000496293.1:p.Thr77Ile
ENST00000646279.1:n.563C>T
ENST00000646709.1:c.176C>T	ENSP00000495278.1:p.Thr59Ile
ENST00000646731.1:c.266C>T	ENSP00000493828.1:p.Thr89Ile
ENST00000646960.1:c.266C>T	ENSP00000496481.1:p.Thr89Ile
ENST00000647387.1:c.176C>T	ENSP00000495487.1:p.Thr59Ile
ENST00000336617.7:c.266C>T	ENSP00000337623.2:p.Thr89Ile
ENST00000422660.5:c.266C>T	ENSP00000389877.1:p.Thr89Ile
ENST00000459681.2:n.64C>T
ENST00000495244.6:n.277C>T
ENST00000611510.4:c.266C>T	ENSP00000481236.2:p.Thr89Ile
NM_001142279.2:c.266C>T , LRG_279t1:c.266C>T	NP_001135751.1:p.Thr89Ile
NM_024570.3:c.266C>T , LRG_279t2:c.266C>T	NP_078846.2:p.Thr89Ile
XM_005266524.2:c.266C>T	XP_005266581.1:p.Thr89Ile
XM_005266525.2:c.266C>T	XP_005266582.1:p.Thr89Ile
XM_006719867.2:c.248C>T	XP_006719930.1:p.Thr83Ile
XM_011535229.1:c.266C>T	XP_011533531.1:p.Thr89Ile
XM_011535230.1:c.266C>T	XP_011533532.1:p.Thr89Ile
XM_011535231.1:c.266C>T	XP_011533533.1:p.Thr89Ile
XM_011535232.1:c.104C>T	XP_011533534.1:p.Thr35Ile
XM_011535233.1:c.-348C>T	XP_011533535.1:n.-348C>T
XM_011535234.1:c.266C>T	XP_011533536.1:p.Thr89Ile
XM_006719867.4:c.248C>T	XP_006719930.1:p.Thr83Ile
XM_011535230.2:c.266C>T	XP_011533532.1:p.Thr89Ile
XM_011535231.2:c.266C>T	XP_011533533.1:p.Thr89Ile
XM_011535233.2:c.-348C>T	XP_011533535.1:n.-348C>T
XM_017020747.1:c.266C>T	XP_016876236.1:p.Thr89Ile
NM_024570.4:c.266C>T MANE Select	NP_078846.2:p.Thr89Ile