Canonical Allele Identifier: CA2580615842
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2566084
ClinVar RCV Id: RCV003306369

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982995_5982997delinsTAA , CM000669.2:g.5982995_5982997delinsTAA GRCh38
NC_000007.13:g.6022626_6022628delinsTAA , CM000669.1:g.6022626_6022628delinsTAA GRCh37
NC_000007.12:g.5989152_5989154delinsTAA NCBI36
NG_008466.1:g.31110_31112delinsTTA , LRG_161:g.31110_31112delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1403-6_*1403-4delinsTTA ENSP00000514615.2:n.*1403-6_*1403-4delinsTTA
ENST00000699840.2:c.2004-6_2004-4delinsTTA ENSP00000514638.2:n.2004-6_2004-4delinsTTA
ENST00000699930.2:c.1899-6_1899-4delinsTTA ENSP00000514695.2:n.1899-6_1899-4delinsTTA
ENST00000406569.8:c.1678+4090_1678+4092delinsTTA ENSP00000514464.1:n.1678+4090_1678+4092delinsTTA
ENST00000644110.2:c.*1601-6_*1601-4delinsTTA ENSP00000496392.2:n.*1601-6_*1601-4delinsTTA
ENST00000699752.1:c.1851-6_1851-4delinsTTA ENSP00000514561.1:n.1851-6_1851-4delinsTTA
ENST00000699753.1:c.*1428-6_*1428-4delinsTTA ENSP00000514562.1:n.*1428-6_*1428-4delinsTTA
ENST00000699754.1:c.1809-6_1809-4delinsTTA ENSP00000514563.1:n.1809-6_1809-4delinsTTA
ENST00000699755.1:c.*1406-6_*1406-4delinsTTA ENSP00000514564.1:n.*1406-6_*1406-4delinsTTA
ENST00000699756.1:c.*1594-6_*1594-4delinsTTA ENSP00000514565.1:n.*1594-6_*1594-4delinsTTA
ENST00000699757.1:c.*1264-6_*1264-4delinsTTA ENSP00000514566.1:n.*1264-6_*1264-4delinsTTA
ENST00000699758.1:c.*1264-6_*1264-4delinsTTA ENSP00000514567.1:n.*1264-6_*1264-4delinsTTA
ENST00000699759.1:n.2861-6_2861-4delinsTTA
ENST00000699760.1:c.1689-6_1689-4delinsTTA ENSP00000514568.1:n.1689-6_1689-4delinsTTA
ENST00000699761.1:c.1602-6_1602-4delinsTTA ENSP00000514569.1:n.1602-6_1602-4delinsTTA
ENST00000699762.1:c.1434-6_1434-4delinsTTA ENSP00000514570.1:n.1434-6_1434-4delinsTTA
ENST00000699763.1:c.*1097-6_*1097-4delinsTTA ENSP00000514571.1:n.*1097-6_*1097-4delinsTTA
ENST00000699764.1:c.*325-6_*325-4delinsTTA ENSP00000514572.1:n.*325-6_*325-4delinsTTA
ENST00000699765.1:c.*1103-6_*1103-4delinsTTA ENSP00000514573.1:n.*1103-6_*1103-4delinsTTA
ENST00000699766.1:c.2007-6_2007-4delinsTTA ENSP00000514574.1:n.2007-6_2007-4delinsTTA
ENST00000699767.1:c.2007-6_2007-4delinsTTA ENSP00000514575.1:n.2007-6_2007-4delinsTTA
ENST00000699768.1:c.2007-6_2007-4delinsTTA ENSP00000514576.1:n.2007-6_2007-4delinsTTA
ENST00000699811.1:c.1602-6_1602-4delinsTTA ENSP00000514614.1:n.1602-6_1602-4delinsTTA
ENST00000699813.1:n.2120-6_2120-4delinsTTA
ENST00000699814.1:c.1630-6_1630-4delinsTTA
ENST00000699815.1:c.*1538-6_*1538-4delinsTTA ENSP00000514616.1:n.*1538-6_*1538-4delinsTTA
ENST00000699816.1:c.*897-6_*897-4delinsTTA ENSP00000514617.1:n.*897-6_*897-4delinsTTA
ENST00000699817.1:c.*1601-6_*1601-4delinsTTA ENSP00000514618.1:n.*1601-6_*1601-4delinsTTA
ENST00000699818.1:c.1602-6_1602-4delinsTTA ENSP00000514619.1:n.1602-6_1602-4delinsTTA
ENST00000699819.1:c.*1164-6_*1164-4delinsTTA ENSP00000514620.1:n.*1164-6_*1164-4delinsTTA
ENST00000699820.1:c.1145-6_1145-4delinsTTA ENSP00000514621.1:n.1145-6_1145-4delinsTTA
ENST00000699821.1:c.1602-6_1602-4delinsTTA ENSP00000514622.1:n.1602-6_1602-4delinsTTA
ENST00000699822.1:c.*1459-6_*1459-4delinsTTA ENSP00000514623.1:n.*1459-6_*1459-4delinsTTA
ENST00000699823.1:c.1602-6_1602-4delinsTTA ENSP00000514624.1:n.1602-6_1602-4delinsTTA
ENST00000699824.1:c.*1510-6_*1510-4delinsTTA ENSP00000514625.1:n.*1510-6_*1510-4delinsTTA
ENST00000699825.1:c.1446-6_1446-4delinsTTA ENSP00000514626.1:n.1446-6_1446-4delinsTTA
ENST00000699826.1:c.*1406-6_*1406-4delinsTTA ENSP00000514627.1:n.*1406-6_*1406-4delinsTTA
ENST00000699827.1:c.1839-6_1839-4delinsTTA ENSP00000514628.1:n.1839-6_1839-4delinsTTA
ENST00000699828.1:c.*1097-6_*1097-4delinsTTA ENSP00000514629.1:n.*1097-6_*1097-4delinsTTA
ENST00000699833.1:n.3779-6_3779-4delinsTTA
ENST00000699837.1:c.1602-6_1602-4delinsTTA ENSP00000514635.1:n.1602-6_1602-4delinsTTA
ENST00000699838.1:c.*1907-6_*1907-4delinsTTA ENSP00000514636.1:n.*1907-6_*1907-4delinsTTA
ENST00000699839.1:c.2193-6_2193-4delinsTTA ENSP00000514637.1:n.2193-6_2193-4delinsTTA
ENST00000699916.1:c.*1264-6_*1264-4delinsTTA ENSP00000514684.1:n.*1264-6_*1264-4delinsTTA
ENST00000699917.1:c.*1456-6_*1456-4delinsTTA ENSP00000514685.1:n.*1456-6_*1456-4delinsTTA
ENST00000699918.1:c.*1508-6_*1508-4delinsTTA ENSP00000514686.1:n.*1508-6_*1508-4delinsTTA
ENST00000699919.1:c.*1594-6_*1594-4delinsTTA ENSP00000514687.1:n.*1594-6_*1594-4delinsTTA
ENST00000699920.1:c.*1643-6_*1643-4delinsTTA ENSP00000514688.1:n.*1643-6_*1643-4delinsTTA
ENST00000699928.1:c.989-6_989-4delinsTTA ENSP00000514693.1:n.989-6_989-4delinsTTA
ENST00000699951.1:c.*1103-6_*1103-4delinsTTA ENSP00000514706.1:n.*1103-6_*1103-4delinsTTA
ENST00000699952.1:c.804-9455_804-9453delinsTTA ENSP00000514707.1:n.804-9455_804-9453delinsTTA
ENST00000265849.12:c.2007-6_2007-4delinsTTA MANE Select ENSP00000265849.7:n.2007-6_2007-4delinsTTA
ENST00000642292.1:c.1602-6_1602-4delinsTTA ENSP00000495524.1:n.1602-6_1602-4delinsTTA
ENST00000642456.1:c.1602-6_1602-4delinsTTA ENSP00000493814.1:n.1602-6_1602-4delinsTTA
ENST00000643595.1:c.*1406-6_*1406-4delinsTTA ENSP00000494497.1:n.*1406-6_*1406-4delinsTTA
ENST00000644110.1:c.1689-6_1689-4delinsTTA ENSP00000496392.1:n.1689-6_1689-4delinsTTA
ENST00000265849.11:c.2007-6_2007-4delinsTTA ENSP00000265849.7:n.2007-6_2007-4delinsTTA
ENST00000382321.5:c.804-6_804-4delinsTTA ENSP00000371758.4:n.804-6_804-4delinsTTA
ENST00000406569.7:n.1678+4090_1678+4092delinsTTA
ENST00000441476.6:c.1689-6_1689-4delinsTTA ENSP00000392843.2:n.1689-6_1689-4delinsTTA
ENST00000469652.1:n.63-92_63-90delinsTTA
NM_000535.5:c.2007-6_2007-4delinsTTA , LRG_161t1:c.2007-6_2007-4delinsTTA NP_000526.1:n.2007-6_2007-4delinsTTA
NR_003085.2:n.2089-6_2089-4delinsTTA
XM_006715742.2:c.2001-6_2001-4delinsTTA XP_006715805.1:n.2001-6_2001-4delinsTTA
XM_006715744.2:c.1074-6_1074-4delinsTTA XP_006715807.1:n.1074-6_1074-4delinsTTA
XM_011515427.1:c.2052-6_2052-4delinsTTA XP_011513729.1:n.2052-6_2052-4delinsTTA
XM_011515428.1:c.1896-6_1896-4delinsTTA XP_011513730.1:n.1896-6_1896-4delinsTTA
XM_011515429.1:c.1689-6_1689-4delinsTTA XP_011513731.1:n.1689-6_1689-4delinsTTA
XM_011515430.1:c.1689-6_1689-4delinsTTA XP_011513732.1:n.1689-6_1689-4delinsTTA
NM_000535.6:c.2007-6_2007-4delinsTTA NP_000526.2:n.2007-6_2007-4delinsTTA
NM_001322003.1:c.1602-6_1602-4delinsTTA NP_001308932.1:n.1602-6_1602-4delinsTTA
NM_001322004.1:c.1602-6_1602-4delinsTTA NP_001308933.1:n.1602-6_1602-4delinsTTA
NM_001322005.1:c.1602-6_1602-4delinsTTA NP_001308934.1:n.1602-6_1602-4delinsTTA
NM_001322006.1:c.1851-6_1851-4delinsTTA NP_001308935.1:n.1851-6_1851-4delinsTTA
NM_001322007.1:c.1689-6_1689-4delinsTTA NP_001308936.1:n.1689-6_1689-4delinsTTA
NM_001322008.1:c.1689-6_1689-4delinsTTA NP_001308937.1:n.1689-6_1689-4delinsTTA
NM_001322009.1:c.1602-6_1602-4delinsTTA NP_001308938.1:n.1602-6_1602-4delinsTTA
NM_001322010.1:c.1446-6_1446-4delinsTTA NP_001308939.1:n.1446-6_1446-4delinsTTA
NM_001322011.1:c.1074-6_1074-4delinsTTA NP_001308940.1:n.1074-6_1074-4delinsTTA
NM_001322012.1:c.1074-6_1074-4delinsTTA NP_001308941.1:n.1074-6_1074-4delinsTTA
NM_001322013.1:c.1434-6_1434-4delinsTTA NP_001308942.1:n.1434-6_1434-4delinsTTA
NM_001322014.1:c.2007-6_2007-4delinsTTA NP_001308943.1:n.2007-6_2007-4delinsTTA
NM_001322015.1:c.1698-6_1698-4delinsTTA NP_001308944.1:n.1698-6_1698-4delinsTTA
NR_136154.1:n.2094-6_2094-4delinsTTA
XM_006715744.4:c.1074-6_1074-4delinsTTA XP_006715807.1:n.1074-6_1074-4delinsTTA
XM_017012342.2:c.1074-6_1074-4delinsTTA XP_016867831.1:n.1074-6_1074-4delinsTTA
XM_024446800.1:c.1446-6_1446-4delinsTTA XP_024302568.1:n.1446-6_1446-4delinsTTA
NM_000535.7:c.2007-6_2007-4delinsTTA MANE Select NP_000526.2:n.2007-6_2007-4delinsTTA
NM_001322003.2:c.1602-6_1602-4delinsTTA NP_001308932.1:n.1602-6_1602-4delinsTTA
NM_001322004.2:c.1602-6_1602-4delinsTTA NP_001308933.1:n.1602-6_1602-4delinsTTA
NM_001322005.2:c.1602-6_1602-4delinsTTA NP_001308934.1:n.1602-6_1602-4delinsTTA
NM_001322006.2:c.1851-6_1851-4delinsTTA NP_001308935.1:n.1851-6_1851-4delinsTTA
NM_001322008.2:c.1689-6_1689-4delinsTTA NP_001308937.1:n.1689-6_1689-4delinsTTA
NM_001322009.2:c.1602-6_1602-4delinsTTA NP_001308938.1:n.1602-6_1602-4delinsTTA
NM_001322010.2:c.1446-6_1446-4delinsTTA NP_001308939.1:n.1446-6_1446-4delinsTTA
NM_001322011.2:c.1074-6_1074-4delinsTTA NP_001308940.1:n.1074-6_1074-4delinsTTA
NM_001322012.2:c.1074-6_1074-4delinsTTA NP_001308941.1:n.1074-6_1074-4delinsTTA
NM_001322013.2:c.1434-6_1434-4delinsTTA NP_001308942.1:n.1434-6_1434-4delinsTTA
NM_001322014.2:c.2007-6_2007-4delinsTTA NP_001308943.1:n.2007-6_2007-4delinsTTA
NM_001322015.2:c.1698-6_1698-4delinsTTA NP_001308944.1:n.1698-6_1698-4delinsTTA
NM_001322007.2:c.1689-6_1689-4delinsTTA NP_001308936.1:n.1689-6_1689-4delinsTTA