Canonical Allele Identifier: CA16042922
Gene: RNASEH2B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372492
ClinVar RCV Id: RCV000414685
dbSNP Id: rs1057517815

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50930675A>G , CM000675.2:g.50930675A>G GRCh38
NC_000013.10:g.51504811A>G , CM000675.1:g.51504811A>G GRCh37
NC_000013.9:g.50402812A>G NCBI36
NG_009055.1:g.25920A>G , LRG_279:g.25920A>G

Transcript Alleles

HGVS Amino-acid change
NM_001142279.2:c.245-8A>G , LRG_279t1:c.245-8A>G NP_001135751.1:p.=
NM_024570.3:c.245-8A>G , LRG_279t2:c.245-8A>G NP_078846.2:p.=
XM_005266524.2:c.245-8A>G XP_005266581.1:p.=
XM_005266525.2:c.245-8A>G XP_005266582.1:p.=
XM_006719867.2:c.227-8A>G XP_006719930.1:p.=
XM_011535229.1:c.245-8A>G XP_011533531.1:p.=
XM_011535230.1:c.245-8A>G XP_011533532.1:p.=
XM_011535231.1:c.245-8A>G XP_011533533.1:p.=
XM_011535232.1:c.83-8A>G XP_011533534.1:p.=
XM_011535233.1:c.-369-8A>G XP_011533535.1:p.=
XM_011535234.1:c.245-8A>G XP_011533536.1:p.=
XM_006719867.4:c.227-8A>G XP_006719930.1:p.=
XM_011535230.2:c.245-8A>G XP_011533532.1:p.=
XM_011535231.2:c.245-8A>G XP_011533533.1:p.=
XM_011535233.2:c.-369-8A>G XP_011533535.1:p.=
XM_017020747.1:c.245-8A>G XP_016876236.1:p.=
ENST00000336617.7:c.245-8A>G ENSP00000337623.2:p.=
ENST00000422660.5:c.245-8A>G ENSP00000389877.1:p.=
ENST00000459681.2:n.43-8A>G
ENST00000495244.6:n.256-8A>G
ENST00000611510.4:c.245-8A>G ENSP00000481236.2:p.=