Canonical Allele Identifier: CA388259479

Gene: RNASEH2B

Linked Data

• MyVariant Identifiers: chr13:g.51517510T>A (hg19) ; chr13:g.50943374T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50943374T>A , CM000675.2:g.50943374T>A	GRCh38
NC_000013.10:g.51517510T>A , CM000675.1:g.51517510T>A	GRCh37
NC_000013.9:g.50415511T>A	NCBI36
NG_009055.1:g.38619T>A , LRG_279:g.38619T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.490T>A MANE Select	ENSP00000337623.2:p.Leu164Ile
ENST00000422660.6:c.490T>A	ENSP00000389877.1:p.Leu164Ile
ENST00000459681.3:n.173T>A
ENST00000495244.7:n.501T>A
ENST00000611510.5:c.400T>A	ENSP00000481236.3:p.Leu134Ile
ENST00000616907.2:c.490T>A	ENSP00000482701.2:p.Leu164Ile
ENST00000642207.1:c.229T>A
ENST00000642454.1:c.400T>A	ENSP00000494221.1:p.Leu134Ile
ENST00000642721.1:c.490T>A	ENSP00000495650.1:p.Leu164Ile
ENST00000642995.1:c.373T>A	ENSP00000493499.1:p.Leu125Ile
ENST00000643159.1:c.400T>A	ENSP00000495587.1:p.Leu134Ile
ENST00000643215.1:c.360T>A
ENST00000643405.1:c.138T>A
ENST00000643529.1:c.3T>A
ENST00000643682.1:c.490T>A	ENSP00000493655.1:p.Leu164Ile
ENST00000643774.1:c.454T>A	ENSP00000495482.1:p.Leu152Ile
ENST00000644034.1:c.65-4613T>A	ENSP00000495456.1:n.65-4613T>A
ENST00000644183.1:c.380T>A	ENSP00000495657.1:n.380T>A
ENST00000644297.1:c.*348T>A	ENSP00000495519.1:n.*348T>A
ENST00000644420.1:n.516T>A
ENST00000644425.1:c.441T>A
ENST00000644518.1:c.*357T>A	ENSP00000495793.1:n.*357T>A
ENST00000645188.1:c.481T>A	ENSP00000496224.1:p.Leu161Ile
ENST00000645333.1:n.422T>A
ENST00000645370.1:c.325T>A	ENSP00000494019.1:p.Leu109Ile
ENST00000645618.1:c.400T>A	ENSP00000495429.1:p.Leu134Ile
ENST00000645712.1:n.514T>A
ENST00000645955.1:c.490T>A	ENSP00000495755.1:p.Leu164Ile
ENST00000645990.1:c.490T>A	ENSP00000496571.1:p.Leu164Ile
ENST00000646092.1:c.454T>A	ENSP00000496293.1:p.Leu152Ile
ENST00000646279.1:n.787T>A
ENST00000646339.1:c.152T>A	ENSP00000495773.1:n.152T>A
ENST00000646709.1:c.400T>A	ENSP00000495278.1:p.Leu134Ile
ENST00000646731.1:c.481T>A	ENSP00000493828.1:p.Leu161Ile
ENST00000646960.1:c.490T>A	ENSP00000496481.1:p.Leu164Ile
ENST00000646964.1:n.1129T>A
ENST00000647387.1:c.400T>A	ENSP00000495487.1:p.Leu134Ile
ENST00000336617.7:c.490T>A	ENSP00000337623.2:p.Leu164Ile
ENST00000422660.5:c.490T>A	ENSP00000389877.1:p.Leu164Ile
ENST00000495244.6:n.501T>A
ENST00000611510.4:c.490T>A	ENSP00000481236.2:p.Leu164Ile
ENST00000613449.4:n.2552T>A
ENST00000621641.1:n.78T>A
NM_001142279.2:c.490T>A , LRG_279t1:c.490T>A	NP_001135751.1:p.Leu164Ile
NM_024570.3:c.490T>A , LRG_279t2:c.490T>A	NP_078846.2:p.Leu164Ile
XM_005266524.2:c.490T>A	XP_005266581.1:p.Leu164Ile
XM_005266525.2:c.490T>A	XP_005266582.1:p.Leu164Ile
XM_006719867.2:c.472T>A	XP_006719930.1:p.Leu158Ile
XM_011535229.1:c.490T>A	XP_011533531.1:p.Leu164Ile
XM_011535230.1:c.490T>A	XP_011533532.1:p.Leu164Ile
XM_011535231.1:c.490T>A	XP_011533533.1:p.Leu164Ile
XM_011535232.1:c.328T>A	XP_011533534.1:p.Leu110Ile
XM_011535233.1:c.82T>A	XP_011533535.1:p.Leu28Ile
XM_011535234.1:c.490T>A	XP_011533536.1:p.Leu164Ile
XM_006719867.4:c.472T>A	XP_006719930.1:p.Leu158Ile
XM_011535230.2:c.490T>A	XP_011533532.1:p.Leu164Ile
XM_011535231.2:c.490T>A	XP_011533533.1:p.Leu164Ile
XM_011535233.2:c.82T>A	XP_011533535.1:p.Leu28Ile
XM_017020747.1:c.490T>A	XP_016876236.1:p.Leu164Ile
NM_024570.4:c.490T>A MANE Select	NP_078846.2:p.Leu164Ile