Canonical Allele Identifier: CA345736872

Gene: RNASEH1

Linked Data

• gnomAD v4: 2-3549059-T-C
• COSMIC: COSM6307647
• MyVariant Identifiers: chr2:g.3596649T>C (hg19) ; chr2:g.3549059T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549059T>C , CM000664.2:g.3549059T>C	GRCh38
NC_000002.11:g.3596649T>C , CM000664.1:g.3596649T>C	GRCh37
NC_000002.10:g.3574524T>C	NCBI36
NG_051310.1:g.14313A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.563A>G MANE Select	ENSP00000313350.3:p.His188Arg
ENST00000654051.1:c.563A>G	ENSP00000499604.1:p.His188Arg
ENST00000658393.1:c.563A>G	ENSP00000499330.1:p.His188Arg
ENST00000315212.3:c.563A>G	ENSP00000313350.3:p.His188Arg
ENST00000436842.5:c.*669A>G	ENSP00000404926.1:n.*669A>G
NM_001286834.1:c.485A>G	NP_001273763.1:p.His162Arg
NM_001286837.1:c.212A>G	NP_001273766.1:p.His71Arg
NM_002936.4:c.563A>G	NP_002927.2:p.His188Arg
XR_244873.1:n.670A>G
XR_922665.1:n.670A>G
XR_922666.1:n.670A>G
XR_922667.1:n.670A>G
XR_922668.1:n.670A>G
XR_922669.1:n.670A>G
XR_922670.1:n.670A>G
XR_922671.1:n.670A>G
XR_922672.1:n.670A>G
XR_922673.1:n.670A>G
XR_922674.1:n.670A>G
NM_001286834.2:c.485A>G	NP_001273763.1:p.His162Arg
NM_001286837.2:c.212A>G	NP_001273766.1:p.His71Arg
NM_002936.5:c.563A>G	NP_002927.2:p.His188Arg
NR_148532.1:n.674A>G
NR_148533.1:n.674A>G
NR_148534.1:n.674A>G
NM_001286837.3:c.212A>G	NP_001273766.1:p.His71Arg
NR_148532.2:n.636A>G
NR_148533.2:n.636A>G
NR_148534.2:n.636A>G
NM_001286834.3:c.485A>G	NP_001273763.1:p.His162Arg
NM_001378271.1:c.563A>G	NP_001365200.1:p.His188Arg
NM_001378272.1:c.560A>G	NP_001365201.1:p.His187Arg
NM_001378273.1:c.548A>G	NP_001365202.1:p.His183Arg
NM_002936.6:c.563A>G MANE Select	NP_002927.2:p.His188Arg
NR_165465.1:n.520A>G
NR_165466.1:n.605A>G
NR_165467.1:n.805A>G
NR_165468.1:n.608A>G