Canonical Allele Identifier: CA010172
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127766
dbSNP Id: rs142506484
gnomAD v2: 7-6026673-T-C
gnomAD v3: 7-5987042-T-C
gnomAD v4: 7-5987042-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987042T>C , CM000669.2:g.5987042T>C GRCh38
NC_000007.13:g.6026673T>C , CM000669.1:g.6026673T>C GRCh37
NC_000007.12:g.5993199T>C NCBI36
NG_008466.1:g.27065A>G , LRG_161:g.27065A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1119A>G ENSP00000514615.2:n.*1119A>G
ENST00000699840.2:c.1720A>G ENSP00000514638.2:p.Asn574Asp
ENST00000699930.2:c.1615A>G ENSP00000514695.2:p.Asn539Asp
ENST00000406569.8:c.1678+45A>G ENSP00000514464.1:n.1678+45A>G
ENST00000644110.2:c.*1317A>G ENSP00000496392.2:n.*1317A>G
ENST00000699752.1:c.1567A>G ENSP00000514561.1:p.Asn523Asp
ENST00000699753.1:c.*1144A>G ENSP00000514562.1:n.*1144A>G
ENST00000699754.1:c.1525A>G ENSP00000514563.1:p.Asn509Asp
ENST00000699755.1:c.*1122A>G ENSP00000514564.1:n.*1122A>G
ENST00000699756.1:c.*1310A>G ENSP00000514565.1:n.*1310A>G
ENST00000699757.1:c.*980A>G ENSP00000514566.1:n.*980A>G
ENST00000699758.1:c.*980A>G ENSP00000514567.1:n.*980A>G
ENST00000699759.1:n.2577A>G
ENST00000699760.1:c.1405A>G ENSP00000514568.1:p.Asn469Asp
ENST00000699761.1:c.1318A>G ENSP00000514569.1:p.Asn440Asp
ENST00000699762.1:c.1150A>G ENSP00000514570.1:p.Asn384Asp
ENST00000699763.1:c.*813A>G ENSP00000514571.1:n.*813A>G
ENST00000699764.1:c.*41A>G ENSP00000514572.1:n.*41A>G
ENST00000699765.1:c.*819A>G ENSP00000514573.1:n.*819A>G
ENST00000699766.1:c.1723A>G ENSP00000514574.1:p.Asn575Asp
ENST00000699767.1:c.1723A>G ENSP00000514575.1:p.Asn575Asp
ENST00000699768.1:c.1723A>G ENSP00000514576.1:p.Asn575Asp
ENST00000699811.1:c.1318A>G ENSP00000514614.1:p.Asn440Asp
ENST00000699813.1:n.1836A>G
ENST00000699814.1:c.1346A>G
ENST00000699815.1:c.*1254A>G ENSP00000514616.1:n.*1254A>G
ENST00000699816.1:c.*613A>G ENSP00000514617.1:n.*613A>G
ENST00000699817.1:c.*1317A>G ENSP00000514618.1:n.*1317A>G
ENST00000699818.1:c.1318A>G ENSP00000514619.1:p.Asn440Asp
ENST00000699819.1:c.*880A>G ENSP00000514620.1:n.*880A>G
ENST00000699820.1:c.1144+2758A>G ENSP00000514621.1:n.1144+2758A>G
ENST00000699821.1:c.1318A>G ENSP00000514622.1:p.Asn440Asp
ENST00000699822.1:c.*1175A>G ENSP00000514623.1:n.*1175A>G
ENST00000699823.1:c.1318A>G ENSP00000514624.1:p.Asn440Asp
ENST00000699824.1:c.*1226A>G ENSP00000514625.1:n.*1226A>G
ENST00000699825.1:c.1162A>G ENSP00000514626.1:p.Asn388Asp
ENST00000699826.1:c.*1122A>G ENSP00000514627.1:n.*1122A>G
ENST00000699827.1:c.1555A>G ENSP00000514628.1:p.Asn519Asp
ENST00000699828.1:c.*813A>G ENSP00000514629.1:n.*813A>G
ENST00000699833.1:n.3495A>G
ENST00000699837.1:c.1318A>G ENSP00000514635.1:p.Asn440Asp
ENST00000699838.1:c.*1623A>G ENSP00000514636.1:n.*1623A>G
ENST00000699839.1:c.1909A>G ENSP00000514637.1:p.Asn637Asp
ENST00000699916.1:c.*980A>G ENSP00000514684.1:n.*980A>G
ENST00000699917.1:c.*1172A>G ENSP00000514685.1:n.*1172A>G
ENST00000699918.1:c.*1224A>G ENSP00000514686.1:n.*1224A>G
ENST00000699919.1:c.*1310A>G ENSP00000514687.1:n.*1310A>G
ENST00000699920.1:c.*1359A>G ENSP00000514688.1:n.*1359A>G
ENST00000699928.1:c.989-4051A>G ENSP00000514693.1:n.989-4051A>G
ENST00000699929.1:c.*1024A>G ENSP00000514694.1:n.*1024A>G
ENST00000699930.1:c.1615A>G ENSP00000514695.1:p.Asn539Asp
ENST00000699931.1:n.3151A>G
ENST00000699951.1:c.*819A>G ENSP00000514706.1:n.*819A>G
ENST00000699952.1:c.803+10284A>G ENSP00000514707.1:n.803+10284A>G
ENST00000699953.1:c.*830A>G ENSP00000514708.1:n.*830A>G
ENST00000699954.1:c.*1024A>G ENSP00000514709.1:n.*1024A>G
ENST00000265849.12:c.1723A>G MANE Select ENSP00000265849.7:p.Asn575Asp
ENST00000642292.1:c.1318A>G ENSP00000495524.1:p.Asn440Asp
ENST00000642456.1:c.1318A>G ENSP00000493814.1:p.Asn440Asp
ENST00000643595.1:c.*1122A>G ENSP00000494497.1:n.*1122A>G
ENST00000644110.1:c.1405A>G ENSP00000496392.1:p.Asn469Asp
ENST00000265849.11:c.1723A>G ENSP00000265849.7:p.Asn575Asp
ENST00000382321.5:c.804-4051A>G ENSP00000371758.4:n.804-4051A>G
ENST00000406569.7:n.1678+45A>G
ENST00000441476.6:c.1405A>G ENSP00000392843.2:p.Asn469Asp
ENST00000469652.1:n.63-4137A>G
NM_000535.5:c.1723A>G , LRG_161t1:c.1723A>G NP_000526.1:p.Asn575Asp
NR_003085.2:n.1805A>G
XM_006715742.2:c.1717A>G XP_006715805.1:p.Asn573Asp
XM_006715744.2:c.790A>G XP_006715807.1:p.Asn264Asp
XM_011515427.1:c.1768A>G XP_011513729.1:p.Asn590Asp
XM_011515428.1:c.1612A>G XP_011513730.1:p.Asn538Asp
XM_011515429.1:c.1405A>G XP_011513731.1:p.Asn469Asp
XM_011515430.1:c.1405A>G XP_011513732.1:p.Asn469Asp
NM_000535.6:c.1723A>G NP_000526.2:p.Asn575Asp
NM_001322003.1:c.1318A>G NP_001308932.1:p.Asn440Asp
NM_001322004.1:c.1318A>G NP_001308933.1:p.Asn440Asp
NM_001322005.1:c.1318A>G NP_001308934.1:p.Asn440Asp
NM_001322006.1:c.1567A>G NP_001308935.1:p.Asn523Asp
NM_001322007.1:c.1405A>G NP_001308936.1:p.Asn469Asp
NM_001322008.1:c.1405A>G NP_001308937.1:p.Asn469Asp
NM_001322009.1:c.1318A>G NP_001308938.1:p.Asn440Asp
NM_001322010.1:c.1162A>G NP_001308939.1:p.Asn388Asp
NM_001322011.1:c.790A>G NP_001308940.1:p.Asn264Asp
NM_001322012.1:c.790A>G NP_001308941.1:p.Asn264Asp
NM_001322013.1:c.1150A>G NP_001308942.1:p.Asn384Asp
NM_001322014.1:c.1723A>G NP_001308943.1:p.Asn575Asp
NM_001322015.1:c.1414A>G NP_001308944.1:p.Asn472Asp
NR_136154.1:n.1810A>G
XM_006715744.4:c.790A>G XP_006715807.1:p.Asn264Asp
XM_017012342.2:c.790A>G XP_016867831.1:p.Asn264Asp
XM_024446800.1:c.1162A>G XP_024302568.1:p.Asn388Asp
NM_000535.7:c.1723A>G MANE Select NP_000526.2:p.Asn575Asp
NM_001322003.2:c.1318A>G NP_001308932.1:p.Asn440Asp
NM_001322004.2:c.1318A>G NP_001308933.1:p.Asn440Asp
NM_001322005.2:c.1318A>G NP_001308934.1:p.Asn440Asp
NM_001322006.2:c.1567A>G NP_001308935.1:p.Asn523Asp
NM_001322008.2:c.1405A>G NP_001308937.1:p.Asn469Asp
NM_001322009.2:c.1318A>G NP_001308938.1:p.Asn440Asp
NM_001322010.2:c.1162A>G NP_001308939.1:p.Asn388Asp
NM_001322011.2:c.790A>G NP_001308940.1:p.Asn264Asp
NM_001322012.2:c.790A>G NP_001308941.1:p.Asn264Asp
NM_001322013.2:c.1150A>G NP_001308942.1:p.Asn384Asp
NM_001322014.2:c.1723A>G NP_001308943.1:p.Asn575Asp
NM_001322015.2:c.1414A>G NP_001308944.1:p.Asn472Asp
NM_001322007.2:c.1405A>G NP_001308936.1:p.Asn469Asp