Canonical Allele Identifier: CA2580076882

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1780712
• ClinVar RCV Id: RCV002410305

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986944_5986946delinsCAA , CM000669.2:g.5986944_5986946delinsCAA	GRCh38
NC_000007.13:g.6026575_6026577delinsCAA , CM000669.1:g.6026575_6026577delinsCAA	GRCh37
NC_000007.12:g.5993101_5993103delinsCAA	NCBI36
NG_008466.1:g.27161_27163delinsTTG , LRG_161:g.27161_27163delinsTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1215_*1217delinsTTG	ENSP00000514615.2:n.*1215_*1217delinsTTG
ENST00000699840.2:c.1816_1818delinsTTG	ENSP00000514638.2:p.Val606Leu
ENST00000699930.2:c.1711_1713delinsTTG	ENSP00000514695.2:p.Val571Leu
ENST00000406569.8:c.1678+141_1678+143delinsTTG	ENSP00000514464.1:n.1678+141_1678+143deli...
ENST00000644110.2:c.*1413_*1415delinsTTG	ENSP00000496392.2:n.*1413_*1415delinsTTG
ENST00000699752.1:c.1663_1665delinsTTG	ENSP00000514561.1:p.Val555Leu
ENST00000699753.1:c.*1240_*1242delinsTTG	ENSP00000514562.1:n.*1240_*1242delinsTTG
ENST00000699754.1:c.1621_1623delinsTTG	ENSP00000514563.1:p.Val541Leu
ENST00000699755.1:c.*1218_*1220delinsTTG	ENSP00000514564.1:n.*1218_*1220delinsTTG
ENST00000699756.1:c.*1406_*1408delinsTTG	ENSP00000514565.1:n.*1406_*1408delinsTTG
ENST00000699757.1:c.*1076_*1078delinsTTG	ENSP00000514566.1:n.*1076_*1078delinsTTG
ENST00000699758.1:c.*1076_*1078delinsTTG	ENSP00000514567.1:n.*1076_*1078delinsTTG
ENST00000699759.1:n.2673_2675delinsTTG
ENST00000699760.1:c.1501_1503delinsTTG	ENSP00000514568.1:p.Val501Leu
ENST00000699761.1:c.1414_1416delinsTTG	ENSP00000514569.1:p.Val472Leu
ENST00000699762.1:c.1246_1248delinsTTG	ENSP00000514570.1:p.Val416Leu
ENST00000699763.1:c.*909_*911delinsTTG	ENSP00000514571.1:n.*909_*911delinsTTG
ENST00000699764.1:c.*137_*139delinsTTG	ENSP00000514572.1:n.*137_*139delinsTTG
ENST00000699765.1:c.*915_*917delinsTTG	ENSP00000514573.1:n.*915_*917delinsTTG
ENST00000699766.1:c.1819_1821delinsTTG	ENSP00000514574.1:p.Val607Leu
ENST00000699767.1:c.1819_1821delinsTTG	ENSP00000514575.1:p.Val607Leu
ENST00000699768.1:c.1819_1821delinsTTG	ENSP00000514576.1:p.Val607Leu
ENST00000699811.1:c.1414_1416delinsTTG	ENSP00000514614.1:p.Val472Leu
ENST00000699813.1:n.1932_1934delinsTTG
ENST00000699814.1:c.1442_1444delinsTTG
ENST00000699815.1:c.*1350_*1352delinsTTG	ENSP00000514616.1:n.*1350_*1352delinsTTG
ENST00000699816.1:c.*709_*711delinsTTG	ENSP00000514617.1:n.*709_*711delinsTTG
ENST00000699817.1:c.*1413_*1415delinsTTG	ENSP00000514618.1:n.*1413_*1415delinsTTG
ENST00000699818.1:c.1414_1416delinsTTG	ENSP00000514619.1:p.Val472Leu
ENST00000699819.1:c.*976_*978delinsTTG	ENSP00000514620.1:n.*976_*978delinsTTG
ENST00000699820.1:c.1144+2854_1144+2856delinsTTG	ENSP00000514621.1:n.1144+2854_1144+2856de...
ENST00000699821.1:c.1414_1416delinsTTG	ENSP00000514622.1:p.Val472Leu
ENST00000699822.1:c.*1271_*1273delinsTTG	ENSP00000514623.1:n.*1271_*1273delinsTTG
ENST00000699823.1:c.1414_1416delinsTTG	ENSP00000514624.1:p.Val472Leu
ENST00000699824.1:c.*1322_*1324delinsTTG	ENSP00000514625.1:n.*1322_*1324delinsTTG
ENST00000699825.1:c.1258_1260delinsTTG	ENSP00000514626.1:p.Val420Leu
ENST00000699826.1:c.*1218_*1220delinsTTG	ENSP00000514627.1:n.*1218_*1220delinsTTG
ENST00000699827.1:c.1651_1653delinsTTG	ENSP00000514628.1:p.Val551Leu
ENST00000699828.1:c.*909_*911delinsTTG	ENSP00000514629.1:n.*909_*911delinsTTG
ENST00000699833.1:n.3591_3593delinsTTG
ENST00000699837.1:c.1414_1416delinsTTG	ENSP00000514635.1:p.Val472Leu
ENST00000699838.1:c.*1719_*1721delinsTTG	ENSP00000514636.1:n.*1719_*1721delinsTTG
ENST00000699839.1:c.2005_2007delinsTTG	ENSP00000514637.1:p.Val669Leu
ENST00000699916.1:c.*1076_*1078delinsTTG	ENSP00000514684.1:n.*1076_*1078delinsTTG
ENST00000699917.1:c.*1268_*1270delinsTTG	ENSP00000514685.1:n.*1268_*1270delinsTTG
ENST00000699918.1:c.*1320_*1322delinsTTG	ENSP00000514686.1:n.*1320_*1322delinsTTG
ENST00000699919.1:c.*1406_*1408delinsTTG	ENSP00000514687.1:n.*1406_*1408delinsTTG
ENST00000699920.1:c.*1455_*1457delinsTTG	ENSP00000514688.1:n.*1455_*1457delinsTTG
ENST00000699928.1:c.989-3955_989-3953delinsTTG	ENSP00000514693.1:n.989-3955_989-3953deli...
ENST00000699929.1:c.*1120_*1122delinsTTG	ENSP00000514694.1:n.*1120_*1122delinsTTG
ENST00000699930.1:c.1711_1713delinsTTG	ENSP00000514695.1:p.Val571Leu
ENST00000699931.1:n.3247_3249delinsTTG
ENST00000699951.1:c.*915_*917delinsTTG	ENSP00000514706.1:n.*915_*917delinsTTG
ENST00000699952.1:c.803+10380_803+10382delinsTTG	ENSP00000514707.1:n.803+10380_803+10382de...
ENST00000699953.1:c.*926_*928delinsTTG	ENSP00000514708.1:n.*926_*928delinsTTG
ENST00000699954.1:c.*1120_*1122delinsTTG	ENSP00000514709.1:n.*1120_*1122delinsTTG
ENST00000265849.12:c.1819_1821delinsTTG MANE Select	ENSP00000265849.7:p.Val607Leu
ENST00000642292.1:c.1414_1416delinsTTG	ENSP00000495524.1:p.Val472Leu
ENST00000642456.1:c.1414_1416delinsTTG	ENSP00000493814.1:p.Val472Leu
ENST00000643595.1:c.*1218_*1220delinsTTG	ENSP00000494497.1:n.*1218_*1220delinsTTG
ENST00000644110.1:c.1501_1503delinsTTG	ENSP00000496392.1:p.Val501Leu
ENST00000265849.11:c.1819_1821delinsTTG	ENSP00000265849.7:p.Val607Leu
ENST00000382321.5:c.804-3955_804-3953delinsTTG	ENSP00000371758.4:n.804-3955_804-3953deli...
ENST00000406569.7:n.1678+141_1678+143delinsTTG
ENST00000441476.6:c.1501_1503delinsTTG	ENSP00000392843.2:p.Val501Leu
ENST00000469652.1:n.63-4041_63-4039delinsTTG
NM_000535.5:c.1819_1821delinsTTG , LRG_161t1:c.1819_1821delinsTTG	NP_000526.1:p.Val607Leu
NR_003085.2:n.1901_1903delinsTTG
XM_006715742.2:c.1813_1815delinsTTG	XP_006715805.1:p.Val605Leu
XM_006715744.2:c.886_888delinsTTG	XP_006715807.1:p.Val296Leu
XM_011515427.1:c.1864_1866delinsTTG	XP_011513729.1:p.Val622Leu
XM_011515428.1:c.1708_1710delinsTTG	XP_011513730.1:p.Val570Leu
XM_011515429.1:c.1501_1503delinsTTG	XP_011513731.1:p.Val501Leu
XM_011515430.1:c.1501_1503delinsTTG	XP_011513732.1:p.Val501Leu
NM_000535.6:c.1819_1821delinsTTG	NP_000526.2:p.Val607Leu
NM_001322003.1:c.1414_1416delinsTTG	NP_001308932.1:p.Val472Leu
NM_001322004.1:c.1414_1416delinsTTG	NP_001308933.1:p.Val472Leu
NM_001322005.1:c.1414_1416delinsTTG	NP_001308934.1:p.Val472Leu
NM_001322006.1:c.1663_1665delinsTTG	NP_001308935.1:p.Val555Leu
NM_001322007.1:c.1501_1503delinsTTG	NP_001308936.1:p.Val501Leu
NM_001322008.1:c.1501_1503delinsTTG	NP_001308937.1:p.Val501Leu
NM_001322009.1:c.1414_1416delinsTTG	NP_001308938.1:p.Val472Leu
NM_001322010.1:c.1258_1260delinsTTG	NP_001308939.1:p.Val420Leu
NM_001322011.1:c.886_888delinsTTG	NP_001308940.1:p.Val296Leu
NM_001322012.1:c.886_888delinsTTG	NP_001308941.1:p.Val296Leu
NM_001322013.1:c.1246_1248delinsTTG	NP_001308942.1:p.Val416Leu
NM_001322014.1:c.1819_1821delinsTTG	NP_001308943.1:p.Val607Leu
NM_001322015.1:c.1510_1512delinsTTG	NP_001308944.1:p.Val504Leu
NR_136154.1:n.1906_1908delinsTTG
XM_006715744.4:c.886_888delinsTTG	XP_006715807.1:p.Val296Leu
XM_017012342.2:c.886_888delinsTTG	XP_016867831.1:p.Val296Leu
XM_024446800.1:c.1258_1260delinsTTG	XP_024302568.1:p.Val420Leu
NM_000535.7:c.1819_1821delinsTTG MANE Select	NP_000526.2:p.Val607Leu
NM_001322003.2:c.1414_1416delinsTTG	NP_001308932.1:p.Val472Leu
NM_001322004.2:c.1414_1416delinsTTG	NP_001308933.1:p.Val472Leu
NM_001322005.2:c.1414_1416delinsTTG	NP_001308934.1:p.Val472Leu
NM_001322006.2:c.1663_1665delinsTTG	NP_001308935.1:p.Val555Leu
NM_001322008.2:c.1501_1503delinsTTG	NP_001308937.1:p.Val501Leu
NM_001322009.2:c.1414_1416delinsTTG	NP_001308938.1:p.Val472Leu
NM_001322010.2:c.1258_1260delinsTTG	NP_001308939.1:p.Val420Leu
NM_001322011.2:c.886_888delinsTTG	NP_001308940.1:p.Val296Leu
NM_001322012.2:c.886_888delinsTTG	NP_001308941.1:p.Val296Leu
NM_001322013.2:c.1246_1248delinsTTG	NP_001308942.1:p.Val416Leu
NM_001322014.2:c.1819_1821delinsTTG	NP_001308943.1:p.Val607Leu
NM_001322015.2:c.1510_1512delinsTTG	NP_001308944.1:p.Val504Leu
NM_001322007.2:c.1501_1503delinsTTG	NP_001308936.1:p.Val501Leu