Canonical Allele Identifier: CA331742
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91309
ClinVar RCV Id: RCV000076819

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5997074_6004576delinsCG , CM000669.2:g.5997074_6004576delinsCG GRCh38
NC_000007.13:g.6036705_6044207delinsCG , CM000669.1:g.6036705_6044207delinsCG GRCh37
NC_000007.12:g.6003231_6010733delinsCG NCBI36
NG_008466.1:g.9531_17033delinsCG , LRG_161:g.9531_17033delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.164-518_*299+2034delinsCG
ENST00000699840.2:c.164-518_800+252delinsCG
ENST00000699930.2:c.164-518_695+252delinsCG
ENST00000406569.8:c.164-518_803+252delinsCG
ENST00000644110.2:c.164-518_*397+252delinsCG
ENST00000699752.1:c.164-518_803+252delinsCG
ENST00000699753.1:c.-242-518_*202+252delinsCG
ENST00000699754.1:c.164-518_705+2034delinsCG
ENST00000699755.1:c.-242-518_*202+252delinsCG
ENST00000699756.1:c.164-518_*390+252delinsCG
ENST00000699757.1:c.-52-518_*60+252delinsCG
ENST00000699758.1:c.164-518_*60+252delinsCG
ENST00000699759.1:n.236-518_875+252delinsCG
ENST00000699760.1:c.-52-518_485+252delinsCG
ENST00000699761.1:c.-189-518_398+252delinsCG
ENST00000699762.1:c.-242-518_230+252delinsCG
ENST00000699763.1:c.-242-518_398+252delinsCG
ENST00000699764.1:c.164-518_803+252delinsCG
ENST00000699765.1:c.-52-518_485+252delinsCG
ENST00000699766.1:c.164-518_803+252delinsCG
ENST00000699767.1:c.164-518_803+252delinsCG
ENST00000699768.1:c.164-518_803+252delinsCG
ENST00000699811.1:c.-417-518_398+252delinsCG
ENST00000699814.1:c.88-518_526+2034delinsCG
ENST00000699815.1:c.-242-518_*304+252delinsCG
ENST00000699816.1:c.-242-518_398+252delinsCG
ENST00000699817.1:c.163+1316_*397+252delinsCG
ENST00000699818.1:c.-242-518_398+252delinsCG
ENST00000699819.1:c.-255-518_*60+252delinsCG
ENST00000699820.1:c.164-518_803+252delinsCG
ENST00000699821.1:c.-242-518_398+252delinsCG
ENST00000699822.1:c.-242-518_*255+252delinsCG
ENST00000699823.1:c.-189-518_398+252delinsCG
ENST00000699824.1:c.164-518_*306+252delinsCG
ENST00000699825.1:c.-242-518_398+252delinsCG
ENST00000699826.1:c.-242-518_*202+252delinsCG
ENST00000699827.1:c.164-518_635+252delinsCG
ENST00000699828.1:c.164-518_803+252delinsCG
ENST00000699829.1:c.-189-518_*304+252delinsCG
ENST00000699830.1:c.164-518_*202+252delinsCG
ENST00000699831.1:n.125-518_967delinsCG
ENST00000699833.1:n.244-518_1135delinsCG
ENST00000699837.1:c.-139-518_398+252delinsCG
ENST00000699838.1:c.*64-518_*703+252delinsCG
ENST00000699839.1:c.350-518_989+252delinsCG
ENST00000699840.1:c.164-518_800+252delinsCG
ENST00000699916.1:c.-242-518_*60+252delinsCG
ENST00000699917.1:c.164-518_*252+252delinsCG
ENST00000699918.1:c.164-518_*304+252delinsCG
ENST00000699919.1:c.164-518_*390+252delinsCG
ENST00000699920.1:c.164-518_*439+252delinsCG
ENST00000699928.1:c.164-518_803+252delinsCG
ENST00000699929.1:c.164-518_*105-1441delinsCG
ENST00000699930.1:c.164-518_695+252delinsCG
ENST00000699931.1:n.275-518_914+252delinsCG
ENST00000699932.1:c.164-518_803+252delinsCG
ENST00000699933.1:n.244-518_883+252delinsCG
ENST00000699951.1:c.164-518_803+252delinsCG
ENST00000699952.1:c.164-518_803+252delinsCG
ENST00000699953.1:c.164-518_706-1441delinsCG
ENST00000699954.1:c.164-518_*105-1441delinsCG
ENST00000265849.12:c.164-518_803+252delinsCG
ENST00000642292.1:c.-242-518_398+252delinsCG
ENST00000642456.1:c.-242-518_398+252delinsCG
ENST00000643595.1:c.164-518_*202+252delinsCG
ENST00000265849.11:c.164-518_803+252delinsCG
ENST00000382321.5:c.164-518_803+252delinsCG
ENST00000406569.7:n.164-518_803+252delinsCG
ENST00000441476.6:c.-52-518_485+252delinsCG
ENST00000469652.1:n.62+1417_62+8919delinsCG
NM_000535.5:c.164-518_803+252delinsCG , LRG_161t1:c.164-518_803+252delinsCG
NR_003085.2:n.246-518_885+252delinsCG
XM_006715742.2:c.158-518_797+252delinsCG
XM_011515427.1:c.209-518_848+252delinsCG
XM_011515428.1:c.209-518_848+252delinsCG
XM_011515429.1:c.-52-518_485+252delinsCG
XM_011515430.1:c.-52-518_485+252delinsCG
NM_000535.6:c.164-518_803+252delinsCG
NM_001322003.1:c.-242-518_398+252delinsCG
NM_001322004.1:c.-242-518_398+252delinsCG
NM_001322005.1:c.-242-518_398+252delinsCG
NM_001322006.1:c.164-518_803+252delinsCG
NM_001322007.1:c.-52-518_485+252delinsCG
NM_001322008.1:c.-52-518_485+252delinsCG
NM_001322009.1:c.-242-518_398+252delinsCG
NM_001322010.1:c.-242-518_398+252delinsCG
NM_001322011.1:c.-721-518_-131+252delinsCG
NM_001322012.1:c.-721-518_-131+252delinsCG
NM_001322013.1:c.-242-518_230+252delinsCG
NM_001322014.1:c.164-518_803+252delinsCG
NM_001322015.1:c.-321-518_494+252delinsCG
NR_136154.1:n.251-518_890+252delinsCG
XM_017012342.2:c.-621-518_-31+252delinsCG
XM_024446800.1:c.-242-518_398+252delinsCG
NM_000535.7:c.164-518_803+252delinsCG
NM_001322003.2:c.-242-518_398+252delinsCG
NM_001322004.2:c.-242-518_398+252delinsCG
NM_001322005.2:c.-242-518_398+252delinsCG
NM_001322006.2:c.164-518_803+252delinsCG
NM_001322008.2:c.-52-518_485+252delinsCG
NM_001322009.2:c.-242-518_398+252delinsCG
NM_001322010.2:c.-242-518_398+252delinsCG
NM_001322011.2:c.-721-518_-131+252delinsCG
NM_001322012.2:c.-721-518_-131+252delinsCG
NM_001322013.2:c.-242-518_230+252delinsCG
NM_001322014.2:c.164-518_803+252delinsCG
NM_001322015.2:c.-321-518_494+252delinsCG
NM_001322007.2:c.-52-518_485+252delinsCG