Canonical Allele Identifier: CA424594332

Gene: RNASEH1

Linked Data

• gnomAD v4: 2-3549070-T-C
• MyVariant Identifiers: chr2:g.3596660T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549070T>C , CM000664.2:g.3549070T>C	GRCh38
NC_000002.11:g.3596660T>C , CM000664.1:g.3596660T>C	GRCh37
NC_000002.10:g.3574535T>C	NCBI36
NG_051310.1:g.14302A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000315212.4:c.552A>G MANE Select	ENSP00000313350.3:p.Arg184=
ENST00000654051.1:c.552A>G	ENSP00000499604.1:p.Arg184=
ENST00000658393.1:c.552A>G	ENSP00000499330.1:p.Arg184=
ENST00000315212.3:c.552A>G	ENSP00000313350.3:p.Arg184=
ENST00000436842.5:c.*658A>G	ENSP00000404926.1:n.*658A>G
NM_001286834.1:c.474A>G	NP_001273763.1:p.Arg158=
NM_001286837.1:c.201A>G	NP_001273766.1:p.Arg67=
NM_002936.4:c.552A>G	NP_002927.2:p.Arg184=
XR_244873.1:n.659A>G
XR_922665.1:n.659A>G
XR_922666.1:n.659A>G
XR_922667.1:n.659A>G
XR_922668.1:n.659A>G
XR_922669.1:n.659A>G
XR_922670.1:n.659A>G
XR_922671.1:n.659A>G
XR_922672.1:n.659A>G
XR_922673.1:n.659A>G
XR_922674.1:n.659A>G
NM_001286834.2:c.474A>G	NP_001273763.1:p.Arg158=
NM_001286837.2:c.201A>G	NP_001273766.1:p.Arg67=
NM_002936.5:c.552A>G	NP_002927.2:p.Arg184=
NR_148532.1:n.663A>G
NR_148533.1:n.663A>G
NR_148534.1:n.663A>G
NM_001286837.3:c.201A>G	NP_001273766.1:p.Arg67=
NR_148532.2:n.625A>G
NR_148533.2:n.625A>G
NR_148534.2:n.625A>G
NM_001286834.3:c.474A>G	NP_001273763.1:p.Arg158=
NM_001378271.1:c.552A>G	NP_001365200.1:p.Arg184=
NM_001378272.1:c.549A>G	NP_001365201.1:p.Arg183=
NM_001378273.1:c.537A>G	NP_001365202.1:p.Arg179=
NM_002936.6:c.552A>G MANE Select	NP_002927.2:p.Arg184=
NR_165465.1:n.509A>G
NR_165466.1:n.594A>G
NR_165467.1:n.794A>G
NR_165468.1:n.597A>G