Canonical Allele Identifier: CA645563165
Gene: PMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986888_5986889insT , CM000669.2:g.5986888_5986889insT GRCh38
NC_000007.13:g.6026519_6026520insT , CM000669.1:g.6026519_6026520insT GRCh37
NC_000007.12:g.5993045_5993046insT NCBI36
NG_008466.1:g.27218_27219insA , LRG_161:g.27218_27219insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1272_*1273insA ENSP00000514615.2:n.*1272_*1273insA
ENST00000699840.2:c.1873_1874insA ENSP00000514638.2:p.Ala625AspfsTer2
ENST00000699930.2:c.1768_1769insA ENSP00000514695.2:p.Ala590AspfsTer2
ENST00000406569.8:c.1678+198_1678+199insA ENSP00000514464.1:n.1678+198_1678+199insA
ENST00000644110.2:c.*1470_*1471insA ENSP00000496392.2:n.*1470_*1471insA
ENST00000699752.1:c.1720_1721insA ENSP00000514561.1:p.Ala574AspfsTer2
ENST00000699753.1:c.*1297_*1298insA ENSP00000514562.1:n.*1297_*1298insA
ENST00000699754.1:c.1678_1679insA ENSP00000514563.1:p.Ala560AspfsTer2
ENST00000699755.1:c.*1275_*1276insA ENSP00000514564.1:n.*1275_*1276insA
ENST00000699756.1:c.*1463_*1464insA ENSP00000514565.1:n.*1463_*1464insA
ENST00000699757.1:c.*1133_*1134insA ENSP00000514566.1:n.*1133_*1134insA
ENST00000699758.1:c.*1133_*1134insA ENSP00000514567.1:n.*1133_*1134insA
ENST00000699759.1:n.2730_2731insA
ENST00000699760.1:c.1558_1559insA ENSP00000514568.1:p.Ala520AspfsTer2
ENST00000699761.1:c.1471_1472insA ENSP00000514569.1:p.Ala491AspfsTer2
ENST00000699762.1:c.1303_1304insA ENSP00000514570.1:p.Ala435AspfsTer2
ENST00000699763.1:c.*966_*967insA ENSP00000514571.1:n.*966_*967insA
ENST00000699764.1:c.*194_*195insA ENSP00000514572.1:n.*194_*195insA
ENST00000699765.1:c.*972_*973insA ENSP00000514573.1:n.*972_*973insA
ENST00000699766.1:c.1876_1877insA ENSP00000514574.1:p.Ala626AspfsTer2
ENST00000699767.1:c.1876_1877insA ENSP00000514575.1:p.Ala626AspfsTer2
ENST00000699768.1:c.1876_1877insA ENSP00000514576.1:p.Ala626AspfsTer2
ENST00000699811.1:c.1471_1472insA ENSP00000514614.1:p.Ala491AspfsTer2
ENST00000699813.1:n.1989_1990insA
ENST00000699814.1:c.1499_1500insA
ENST00000699815.1:c.*1407_*1408insA ENSP00000514616.1:n.*1407_*1408insA
ENST00000699816.1:c.*766_*767insA ENSP00000514617.1:n.*766_*767insA
ENST00000699817.1:c.*1470_*1471insA ENSP00000514618.1:n.*1470_*1471insA
ENST00000699818.1:c.1471_1472insA ENSP00000514619.1:p.Ala491AspfsTer2
ENST00000699819.1:c.*1033_*1034insA ENSP00000514620.1:n.*1033_*1034insA
ENST00000699820.1:c.1144+2911_1144+2912insA ENSP00000514621.1:n.1144+2911_1144+2912insA
ENST00000699821.1:c.1471_1472insA ENSP00000514622.1:p.Ala491AspfsTer2
ENST00000699822.1:c.*1328_*1329insA ENSP00000514623.1:n.*1328_*1329insA
ENST00000699823.1:c.1471_1472insA ENSP00000514624.1:p.Ala491AspfsTer2
ENST00000699824.1:c.*1379_*1380insA ENSP00000514625.1:n.*1379_*1380insA
ENST00000699825.1:c.1315_1316insA ENSP00000514626.1:p.Ala439AspfsTer2
ENST00000699826.1:c.*1275_*1276insA ENSP00000514627.1:n.*1275_*1276insA
ENST00000699827.1:c.1708_1709insA ENSP00000514628.1:p.Ala570AspfsTer2
ENST00000699828.1:c.*966_*967insA ENSP00000514629.1:n.*966_*967insA
ENST00000699833.1:n.3648_3649insA
ENST00000699837.1:c.1471_1472insA ENSP00000514635.1:p.Ala491AspfsTer2
ENST00000699838.1:c.*1776_*1777insA ENSP00000514636.1:n.*1776_*1777insA
ENST00000699839.1:c.2062_2063insA ENSP00000514637.1:p.Ala688AspfsTer2
ENST00000699916.1:c.*1133_*1134insA ENSP00000514684.1:n.*1133_*1134insA
ENST00000699917.1:c.*1325_*1326insA ENSP00000514685.1:n.*1325_*1326insA
ENST00000699918.1:c.*1377_*1378insA ENSP00000514686.1:n.*1377_*1378insA
ENST00000699919.1:c.*1463_*1464insA ENSP00000514687.1:n.*1463_*1464insA
ENST00000699920.1:c.*1512_*1513insA ENSP00000514688.1:n.*1512_*1513insA
ENST00000699928.1:c.989-3898_989-3897insA ENSP00000514693.1:n.989-3898_989-3897insA
ENST00000699951.1:c.*972_*973insA ENSP00000514706.1:n.*972_*973insA
ENST00000699952.1:c.803+10437_803+10438insA ENSP00000514707.1:n.803+10437_803+10438insA
ENST00000265849.12:c.1876_1877insA MANE Select ENSP00000265849.7:p.Ala626AspfsTer2
ENST00000642292.1:c.1471_1472insA ENSP00000495524.1:p.Ala491AspfsTer2
ENST00000642456.1:c.1471_1472insA ENSP00000493814.1:p.Ala491AspfsTer2
ENST00000643595.1:c.*1275_*1276insA ENSP00000494497.1:n.*1275_*1276insA
ENST00000644110.1:c.1558_1559insA ENSP00000496392.1:p.Ala520AspfsTer2
ENST00000265849.11:c.1876_1877insA ENSP00000265849.7:p.Ala626AspfsTer2
ENST00000382321.5:c.804-3898_804-3897insA ENSP00000371758.4:n.804-3898_804-3897insA
ENST00000406569.7:n.1678+198_1678+199insA
ENST00000441476.6:c.1558_1559insA ENSP00000392843.2:p.Ala520AspfsTer2
ENST00000469652.1:n.63-3984_63-3983insA
NM_000535.5:c.1876_1877insA , LRG_161t1:c.1876_1877insA NP_000526.1:p.Ala626AspfsTer2
NR_003085.2:n.1958_1959insA
XM_006715742.2:c.1870_1871insA XP_006715805.1:p.Ala624AspfsTer2
XM_006715744.2:c.943_944insA XP_006715807.1:p.Ala315AspfsTer2
XM_011515427.1:c.1921_1922insA XP_011513729.1:p.Ala641AspfsTer2
XM_011515428.1:c.1765_1766insA XP_011513730.1:p.Ala589AspfsTer2
XM_011515429.1:c.1558_1559insA XP_011513731.1:p.Ala520AspfsTer2
XM_011515430.1:c.1558_1559insA XP_011513732.1:p.Ala520AspfsTer2
NM_000535.6:c.1876_1877insA NP_000526.2:p.Ala626AspfsTer2
NM_001322003.1:c.1471_1472insA NP_001308932.1:p.Ala491AspfsTer2
NM_001322004.1:c.1471_1472insA NP_001308933.1:p.Ala491AspfsTer2
NM_001322005.1:c.1471_1472insA NP_001308934.1:p.Ala491AspfsTer2
NM_001322006.1:c.1720_1721insA NP_001308935.1:p.Ala574AspfsTer2
NM_001322007.1:c.1558_1559insA NP_001308936.1:p.Ala520AspfsTer2
NM_001322008.1:c.1558_1559insA NP_001308937.1:p.Ala520AspfsTer2
NM_001322009.1:c.1471_1472insA NP_001308938.1:p.Ala491AspfsTer2
NM_001322010.1:c.1315_1316insA NP_001308939.1:p.Ala439AspfsTer2
NM_001322011.1:c.943_944insA NP_001308940.1:p.Ala315AspfsTer2
NM_001322012.1:c.943_944insA NP_001308941.1:p.Ala315AspfsTer2
NM_001322013.1:c.1303_1304insA NP_001308942.1:p.Ala435AspfsTer2
NM_001322014.1:c.1876_1877insA NP_001308943.1:p.Ala626AspfsTer2
NM_001322015.1:c.1567_1568insA NP_001308944.1:p.Ala523AspfsTer2
NR_136154.1:n.1963_1964insA
XM_006715744.4:c.943_944insA XP_006715807.1:p.Ala315AspfsTer2
XM_017012342.2:c.943_944insA XP_016867831.1:p.Ala315AspfsTer2
XM_024446800.1:c.1315_1316insA XP_024302568.1:p.Ala439AspfsTer2
NM_000535.7:c.1876_1877insA MANE Select NP_000526.2:p.Ala626AspfsTer2
NM_001322003.2:c.1471_1472insA NP_001308932.1:p.Ala491AspfsTer2
NM_001322004.2:c.1471_1472insA NP_001308933.1:p.Ala491AspfsTer2
NM_001322005.2:c.1471_1472insA NP_001308934.1:p.Ala491AspfsTer2
NM_001322006.2:c.1720_1721insA NP_001308935.1:p.Ala574AspfsTer2
NM_001322008.2:c.1558_1559insA NP_001308937.1:p.Ala520AspfsTer2
NM_001322009.2:c.1471_1472insA NP_001308938.1:p.Ala491AspfsTer2
NM_001322010.2:c.1315_1316insA NP_001308939.1:p.Ala439AspfsTer2
NM_001322011.2:c.943_944insA NP_001308940.1:p.Ala315AspfsTer2
NM_001322012.2:c.943_944insA NP_001308941.1:p.Ala315AspfsTer2
NM_001322013.2:c.1303_1304insA NP_001308942.1:p.Ala435AspfsTer2
NM_001322014.2:c.1876_1877insA NP_001308943.1:p.Ala626AspfsTer2
NM_001322015.2:c.1567_1568insA NP_001308944.1:p.Ala523AspfsTer2
NM_001322007.2:c.1558_1559insA NP_001308936.1:p.Ala520AspfsTer2