Canonical Allele Identifier: CA388259368

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50943327-C-T
• MyVariant Identifiers: chr13:g.51517463C>T (hg19) ; chr13:g.50943327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50943327C>T , CM000675.2:g.50943327C>T	GRCh38
NC_000013.10:g.51517463C>T , CM000675.1:g.51517463C>T	GRCh37
NC_000013.9:g.50415464C>T	NCBI36
NG_009055.1:g.38572C>T , LRG_279:g.38572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.443C>T MANE Select	ENSP00000337623.2:p.Pro148Leu
ENST00000422660.6:c.443C>T	ENSP00000389877.1:p.Pro148Leu
ENST00000459681.3:n.126C>T
ENST00000495244.7:n.454C>T
ENST00000611510.5:c.353C>T	ENSP00000481236.3:p.Pro118Leu
ENST00000616907.2:c.443C>T	ENSP00000482701.2:p.Pro148Leu
ENST00000642207.1:c.182C>T
ENST00000642454.1:c.353C>T	ENSP00000494221.1:p.Pro118Leu
ENST00000642721.1:c.443C>T	ENSP00000495650.1:p.Pro148Leu
ENST00000642995.1:c.329-3C>T	ENSP00000493499.1:n.329-3C>T
ENST00000643159.1:c.353C>T	ENSP00000495587.1:p.Pro118Leu
ENST00000643215.1:c.313C>T
ENST00000643405.1:c.91C>T
ENST00000643462.1:c.*258C>T	ENSP00000496130.1:n.*258C>T
ENST00000643682.1:c.443C>T	ENSP00000493655.1:p.Pro148Leu
ENST00000643774.1:c.407C>T	ENSP00000495482.1:p.Pro136Leu
ENST00000644034.1:c.65-4660C>T	ENSP00000495456.1:n.65-4660C>T
ENST00000644183.1:c.333C>T	ENSP00000495657.1:n.333C>T
ENST00000644297.1:c.*304-3C>T	ENSP00000495519.1:n.*304-3C>T
ENST00000644420.1:n.469C>T
ENST00000644425.1:c.394C>T
ENST00000644518.1:c.*310C>T	ENSP00000495793.1:n.*310C>T
ENST00000645188.1:c.437-3C>T	ENSP00000496224.1:n.437-3C>T
ENST00000645333.1:n.375C>T
ENST00000645370.1:c.278C>T	ENSP00000494019.1:p.Pro93Leu
ENST00000645618.1:c.353C>T	ENSP00000495429.1:p.Pro118Leu
ENST00000645712.1:n.470-3C>T
ENST00000645955.1:c.443C>T	ENSP00000495755.1:p.Pro148Leu
ENST00000645990.1:c.443C>T	ENSP00000496571.1:p.Pro148Leu
ENST00000646092.1:c.407C>T	ENSP00000496293.1:p.Pro136Leu
ENST00000646279.1:n.740C>T
ENST00000646339.1:c.105C>T	ENSP00000495773.1:n.105C>T
ENST00000646709.1:c.353C>T	ENSP00000495278.1:p.Pro118Leu
ENST00000646731.1:c.437-3C>T	ENSP00000493828.1:n.437-3C>T
ENST00000646960.1:c.443C>T	ENSP00000496481.1:p.Pro148Leu
ENST00000646964.1:n.1082C>T
ENST00000647387.1:c.353C>T	ENSP00000495487.1:p.Pro118Leu
ENST00000336617.7:c.443C>T	ENSP00000337623.2:p.Pro148Leu
ENST00000422660.5:c.443C>T	ENSP00000389877.1:p.Pro148Leu
ENST00000495244.6:n.454C>T
ENST00000611510.4:c.443C>T	ENSP00000481236.2:p.Pro148Leu
ENST00000613449.4:n.2505C>T
ENST00000621641.1:n.31C>T
NM_001142279.2:c.443C>T , LRG_279t1:c.443C>T	NP_001135751.1:p.Pro148Leu
NM_024570.3:c.443C>T , LRG_279t2:c.443C>T	NP_078846.2:p.Pro148Leu
XM_005266524.2:c.443C>T	XP_005266581.1:p.Pro148Leu
XM_005266525.2:c.443C>T	XP_005266582.1:p.Pro148Leu
XM_006719867.2:c.425C>T	XP_006719930.1:p.Pro142Leu
XM_011535229.1:c.443C>T	XP_011533531.1:p.Pro148Leu
XM_011535230.1:c.443C>T	XP_011533532.1:p.Pro148Leu
XM_011535231.1:c.443C>T	XP_011533533.1:p.Pro148Leu
XM_011535232.1:c.281C>T	XP_011533534.1:p.Pro94Leu
XM_011535233.1:c.35C>T	XP_011533535.1:p.Pro12Leu
XM_011535234.1:c.443C>T	XP_011533536.1:p.Pro148Leu
XM_006719867.4:c.425C>T	XP_006719930.1:p.Pro142Leu
XM_011535230.2:c.443C>T	XP_011533532.1:p.Pro148Leu
XM_011535231.2:c.443C>T	XP_011533533.1:p.Pro148Leu
XM_011535233.2:c.35C>T	XP_011533535.1:p.Pro12Leu
XM_017020747.1:c.443C>T	XP_016876236.1:p.Pro148Leu
NM_024570.4:c.443C>T MANE Select	NP_078846.2:p.Pro148Leu