Canonical Allele Identifier: CA367381132
Gene: POLD2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44116257C>T , CM000669.2:g.44116257C>T GRCh38
NC_000007.13:g.44155856C>T , CM000669.1:g.44155856C>T GRCh37
NC_000007.12:g.44122381C>T NCBI36
NG_056775.1:g.16938C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000418438.2:c.877G>A ENSP00000406702.2:p.Asp293Asn
ENST00000433715.6:c.877G>A ENSP00000389816.2:p.Asp293Asn
ENST00000436400.6:c.862-48G>A ENSP00000399447.2:n.862-48G>A
ENST00000436844.6:c.631G>A ENSP00000416203.2:p.Asp211Asn
ENST00000470867.6:n.995+173G>A
ENST00000698945.1:c.877G>A ENSP00000514051.1:p.Asp293Asn
ENST00000698946.1:c.877G>A ENSP00000514052.1:p.Asp293Asn
ENST00000698947.1:c.877G>A ENSP00000514053.1:p.Asp293Asn
ENST00000698948.1:n.1149G>A
ENST00000698949.1:c.877G>A ENSP00000514054.1:p.Asp293Asn
ENST00000698950.1:c.877G>A ENSP00000514055.1:p.Asp293Asn
ENST00000698951.1:c.861+173G>A ENSP00000514056.1:n.861+173G>A
ENST00000698952.1:n.1347G>A
ENST00000698953.1:n.981G>A
ENST00000698954.1:n.1138G>A
ENST00000698955.1:c.877G>A ENSP00000514057.1:p.Asp293Asn
ENST00000698956.1:n.1001G>A
ENST00000698957.1:n.1433G>A
ENST00000698958.1:n.2181G>A
ENST00000698959.1:c.861+173G>A ENSP00000514058.1:n.861+173G>A
ENST00000698960.1:c.*503G>A ENSP00000514059.1:n.*503G>A
ENST00000698961.1:c.865G>A ENSP00000514060.1:p.Asp289Asn
ENST00000698962.1:c.*381G>A ENSP00000514061.1:n.*381G>A
ENST00000698963.1:n.1266G>A
ENST00000698964.1:n.1347G>A
ENST00000698965.1:c.862-51G>A ENSP00000514062.1:n.862-51G>A
ENST00000698966.1:n.1138G>A
ENST00000698967.1:n.1098G>A
ENST00000698968.1:n.834G>A
ENST00000698969.1:n.1427G>A
ENST00000698970.1:n.1183G>A
ENST00000698971.1:n.981G>A
ENST00000698972.1:n.933G>A
ENST00000698973.1:n.1168G>A
ENST00000698974.1:n.1504G>A
ENST00000698975.1:n.981G>A
ENST00000698976.1:c.*365+173G>A ENSP00000514063.1:n.*365+173G>A
ENST00000698977.1:c.*1447+173G>A ENSP00000514064.1:n.*1447+173G>A
ENST00000698978.1:c.861+173G>A ENSP00000514065.1:n.861+173G>A
ENST00000698979.1:c.861+173G>A ENSP00000514066.1:n.861+173G>A
ENST00000698980.1:n.1168G>A
ENST00000698981.1:n.965+173G>A
ENST00000698982.1:c.*381G>A ENSP00000514067.1:n.*381G>A
ENST00000698983.1:n.1653G>A
ENST00000698984.1:n.981G>A
ENST00000698985.1:n.1138G>A
ENST00000698986.1:n.1138G>A
ENST00000698987.1:n.965+173G>A
ENST00000698988.1:c.877G>A ENSP00000514068.1:p.Asp293Asn
ENST00000698989.1:c.861+173G>A ENSP00000514069.1:n.861+173G>A
ENST00000698990.1:n.981G>A
ENST00000698991.1:c.877G>A ENSP00000514070.1:p.Asp293Asn
ENST00000698992.1:n.1133+173G>A
ENST00000698993.1:n.1306G>A
ENST00000610533.6:c.877G>A MANE Select ENSP00000480186.2:p.Asp293Asn
ENST00000223361.7:c.877G>A ENSP00000223361.3:p.Asp293Asn
ENST00000406581.6:c.877G>A ENSP00000386105.2:p.Asp293Asn
ENST00000436400.5:c.82-48G>A ENSP00000399447.1:n.82-48G>A
ENST00000436844.5:c.631G>A ENSP00000416203.1:p.Asp211Asn
ENST00000452185.5:c.877G>A ENSP00000395231.1:p.Asp293Asn
ENST00000610533.4:c.982G>A ENSP00000480186.1:p.Asp328Asn
NM_001127218.2:c.877G>A NP_001120690.1:p.Asp293Asn
NM_001256879.1:c.877G>A NP_001243808.1:p.Asp293Asn
NM_006230.3:c.982G>A NP_006221.2:p.Asp328Asn
XM_011515431.1:c.976G>A XP_011513733.1:p.Asp326Asn
XM_024446802.1:c.877G>A XP_024302570.1:p.Asp293Asn
XR_002956452.1:n.987G>A
XR_002956453.1:n.989G>A
XR_002956454.1:n.1220G>A
XR_002956455.1:n.1888G>A
XR_002956456.1:n.1613G>A
XR_002956457.1:n.1057G>A
XR_002956458.1:n.1306G>A
XR_002956459.1:n.1162G>A
NM_001127218.3:c.877G>A NP_001120690.1:p.Asp293Asn
NM_001256879.2:c.877G>A NP_001243808.1:p.Asp293Asn
NM_006230.4:c.877G>A MANE Select NP_006221.3:p.Asp293Asn