Canonical Allele Identifier: CA1139771878
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2011669
ClinVar RCV Id: RCV002851332

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5997386_5997501del , CM000669.2:g.5997386_5997501del GRCh38
NC_000007.13:g.6037017_6037132del , CM000669.1:g.6037017_6037132del GRCh37
NC_000007.12:g.6003543_6003658del NCBI36
NG_008466.1:g.16611_16726del , LRG_161:g.16611_16726del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*299+1612_*299+1727del ENSP00000514615.2:n.*299+1612_*299+1727del
ENST00000699840.2:c.703-73_745del
ENST00000699930.2:c.598-73_640del
ENST00000406569.8:c.706-73_748del
ENST00000644110.2:c.*300-73_*342del
ENST00000699752.1:c.706-73_748del
ENST00000699753.1:c.*105-73_*147del
ENST00000699754.1:c.705+1612_705+1727del ENSP00000514563.1:n.705+1612_705+1727del
ENST00000699755.1:c.*105-73_*147del
ENST00000699756.1:c.*293-73_*335del
ENST00000699757.1:c.155-73_*5del
ENST00000699758.1:c.419-73_*5del
ENST00000699759.1:n.778-73_820del
ENST00000699760.1:c.388-73_430del
ENST00000699761.1:c.301-73_343del
ENST00000699762.1:c.133-73_175del
ENST00000699763.1:c.301-73_343del
ENST00000699764.1:c.706-73_748del
ENST00000699765.1:c.388-73_430del
ENST00000699766.1:c.706-73_748del
ENST00000699767.1:c.706-73_748del
ENST00000699768.1:c.706-73_748del
ENST00000699811.1:c.301-73_343del
ENST00000699813.1:n.819-73_861del
ENST00000699814.1:c.526+1612_526+1727del
ENST00000699815.1:c.*207-73_*249del
ENST00000699816.1:c.301-73_343del
ENST00000699817.1:c.*300-73_*342del
ENST00000699818.1:c.301-73_343del
ENST00000699819.1:c.239-73_*5del
ENST00000699820.1:c.706-73_748del
ENST00000699821.1:c.301-73_343del
ENST00000699822.1:c.*158-73_*200del
ENST00000699823.1:c.301-73_343del
ENST00000699824.1:c.*209-73_*251del
ENST00000699825.1:c.301-73_343del
ENST00000699826.1:c.*105-73_*147del
ENST00000699827.1:c.538-73_580del
ENST00000699828.1:c.706-73_748del
ENST00000699829.1:c.*207-73_*249del
ENST00000699830.1:c.*105-73_*147del
ENST00000699831.1:n.618-73_660del
ENST00000699832.1:n.989-73_1031del
ENST00000699833.1:n.786-73_828del
ENST00000699837.1:c.301-73_343del
ENST00000699838.1:c.*606-73_*648del
ENST00000699839.1:c.892-73_934del
ENST00000699840.1:c.703-73_745del
ENST00000699916.1:c.254-73_*5del
ENST00000699917.1:c.*155-73_*197del
ENST00000699918.1:c.*207-73_*249del
ENST00000699919.1:c.*293-73_*335del
ENST00000699920.1:c.*342-73_*384del
ENST00000699928.1:c.706-73_748del
ENST00000699929.1:c.*104+1612_*104+1727del ENSP00000514694.1:n.*104+1612_*104+1727del
ENST00000699930.1:c.598-73_640del
ENST00000699931.1:n.817-73_859del
ENST00000699932.1:c.706-73_748del
ENST00000699933.1:n.786-73_828del
ENST00000699951.1:c.706-73_748del
ENST00000699952.1:c.706-73_748del
ENST00000699953.1:c.705+1612_705+1727del ENSP00000514708.1:n.705+1612_705+1727del
ENST00000699954.1:c.*104+1612_*104+1727del ENSP00000514709.1:n.*104+1612_*104+1727del
ENST00000265849.12:c.706-73_748del
ENST00000642292.1:c.301-73_343del
ENST00000642456.1:c.301-73_343del
ENST00000643595.1:c.*105-73_*147del
ENST00000644110.1:c.388-73_430del
ENST00000265849.11:c.706-73_748del
ENST00000382321.5:c.706-73_748del
ENST00000406569.7:n.706-73_748del
ENST00000441476.6:c.388-73_430del
ENST00000469652.1:n.62+8497_62+8612del
NM_000535.5:c.706-73_748del , LRG_161t1:c.706-73_748del
NR_003085.2:n.788-73_830del
XM_006715742.2:c.700-73_742del
XM_011515427.1:c.751-73_793del
XM_011515428.1:c.751-73_793del
XM_011515429.1:c.388-73_430del
XM_011515430.1:c.388-73_430del
NM_000535.6:c.706-73_748del
NM_001322003.1:c.301-73_343del
NM_001322004.1:c.301-73_343del
NM_001322005.1:c.301-73_343del
NM_001322006.1:c.706-73_748del
NM_001322007.1:c.388-73_430del
NM_001322008.1:c.388-73_430del
NM_001322009.1:c.301-73_343del
NM_001322010.1:c.301-73_343del
NM_001322011.1:c.-228-73_-186del
NM_001322012.1:c.-228-73_-186del
NM_001322013.1:c.133-73_175del
NM_001322014.1:c.706-73_748del
NM_001322015.1:c.397-73_439del
NR_136154.1:n.793-73_835del
XM_017012342.2:c.-128-73_-86del
XM_024446800.1:c.301-73_343del
NM_000535.7:c.706-73_748del
NM_001322003.2:c.301-73_343del
NM_001322004.2:c.301-73_343del
NM_001322005.2:c.301-73_343del
NM_001322006.2:c.706-73_748del
NM_001322008.2:c.388-73_430del
NM_001322009.2:c.301-73_343del
NM_001322010.2:c.301-73_343del
NM_001322011.2:c.-228-73_-186del
NM_001322012.2:c.-228-73_-186del
NM_001322013.2:c.133-73_175del
NM_001322014.2:c.706-73_748del
NM_001322015.2:c.397-73_439del
NM_001322007.2:c.388-73_430del