Canonical Allele Identifier: CA913188206

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1192211
• ClinVar RCV Id: RCV001553597 ; RCV003451809 ; RCV003478871 ; RCV004039305
• dbSNP Id: rs2128671557

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977588_5977589insAA , CM000669.2:g.5977588_5977589insAA	GRCh38
NC_000007.13:g.6017219_6017220insAA , CM000669.1:g.6017219_6017220insAA	GRCh37
NC_000007.12:g.5983745_5983746insAA	NCBI36
NG_008466.1:g.36518_36519insTT , LRG_161:g.36518_36519insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1840_*1841insTT	ENSP00000514615.2:n.*1840_*1841insTT
ENST00000699840.2:c.2441_2442insTT	ENSP00000514638.2:p.Val815TrpfsTer2
ENST00000699930.2:c.2336_2337insTT	ENSP00000514695.2:p.Val780TrpfsTer2
ENST00000406569.8:c.1804_1805insTT	ENSP00000514464.1:n.1804_1805insTT
ENST00000644110.2:c.*2038_*2039insTT	ENSP00000496392.2:n.*2038_*2039insTT
ENST00000699752.1:c.2288_2289insTT	ENSP00000514561.1:p.Val764TrpfsTer2
ENST00000699753.1:c.*1865_*1866insTT	ENSP00000514562.1:n.*1865_*1866insTT
ENST00000699754.1:c.2246_2247insTT	ENSP00000514563.1:p.Val750TrpfsTer2
ENST00000699755.1:c.*1843_*1844insTT	ENSP00000514564.1:n.*1843_*1844insTT
ENST00000699756.1:c.*2031_*2032insTT	ENSP00000514565.1:n.*2031_*2032insTT
ENST00000699757.1:c.*1701_*1702insTT	ENSP00000514566.1:n.*1701_*1702insTT
ENST00000699758.1:c.*1701_*1702insTT	ENSP00000514567.1:n.*1701_*1702insTT
ENST00000699759.1:n.3298_3299insTT
ENST00000699760.1:c.2126_2127insTT	ENSP00000514568.1:p.Val710TrpfsTer2
ENST00000699761.1:c.2039_2040insTT	ENSP00000514569.1:p.Val681TrpfsTer2
ENST00000699762.1:c.1871_1872insTT	ENSP00000514570.1:p.Val625TrpfsTer2
ENST00000699763.1:c.*1534_*1535insTT	ENSP00000514571.1:n.*1534_*1535insTT
ENST00000699764.1:c.*762_*763insTT	ENSP00000514572.1:n.*762_*763insTT
ENST00000699765.1:c.*1439_*1440insTT	ENSP00000514573.1:n.*1439_*1440insTT
ENST00000699766.1:c.2477_2478insTT	ENSP00000514574.1:p.Val827TrpfsTer2
ENST00000699767.1:c.*85_*86insTT	ENSP00000514575.1:n.*85_*86insTT
ENST00000699768.1:c.2300_2301insTT	ENSP00000514576.1:p.Val768TrpfsTer2
ENST00000699811.1:c.2039_2040insTT	ENSP00000514614.1:p.Val681TrpfsTer2
ENST00000699813.1:n.2557_2558insTT
ENST00000699814.1:c.2067_2068insTT
ENST00000699815.1:c.*1975_*1976insTT	ENSP00000514616.1:n.*1975_*1976insTT
ENST00000699816.1:c.*1334_*1335insTT	ENSP00000514617.1:n.*1334_*1335insTT
ENST00000699817.1:c.*2038_*2039insTT	ENSP00000514618.1:n.*2038_*2039insTT
ENST00000699818.1:c.2039_2040insTT	ENSP00000514619.1:p.Val681TrpfsTer2
ENST00000699819.1:c.*1601_*1602insTT	ENSP00000514620.1:n.*1601_*1602insTT
ENST00000699820.1:c.*382_*383insTT	ENSP00000514621.1:n.*382_*383insTT
ENST00000699821.1:c.2072_2073insTT	ENSP00000514622.1:p.Val692TrpfsTer2
ENST00000699822.1:c.*1896_*1897insTT	ENSP00000514623.1:n.*1896_*1897insTT
ENST00000699823.1:c.2039_2040insTT	ENSP00000514624.1:p.Val681TrpfsTer2
ENST00000699824.1:c.*1947_*1948insTT	ENSP00000514625.1:n.*1947_*1948insTT
ENST00000699825.1:c.1883_1884insTT	ENSP00000514626.1:p.Val629TrpfsTer2
ENST00000699826.1:c.*1843_*1844insTT	ENSP00000514627.1:n.*1843_*1844insTT
ENST00000699827.1:c.2276_2277insTT	ENSP00000514628.1:p.Val760TrpfsTer2
ENST00000699828.1:c.*1534_*1535insTT	ENSP00000514629.1:n.*1534_*1535insTT
ENST00000699833.1:n.4216_4217insTT
ENST00000699837.1:c.2039_2040insTT	ENSP00000514635.1:p.Val681TrpfsTer2
ENST00000699838.1:c.*2344_*2345insTT	ENSP00000514636.1:n.*2344_*2345insTT
ENST00000699839.1:c.2630_2631insTT	ENSP00000514637.1:p.Val878TrpfsTer2
ENST00000699916.1:c.*1701_*1702insTT	ENSP00000514684.1:n.*1701_*1702insTT
ENST00000699917.1:c.*1893_*1894insTT	ENSP00000514685.1:n.*1893_*1894insTT
ENST00000699918.1:c.*1945_*1946insTT	ENSP00000514686.1:n.*1945_*1946insTT
ENST00000699919.1:c.*2031_*2032insTT	ENSP00000514687.1:n.*2031_*2032insTT
ENST00000699920.1:c.*2080_*2081insTT	ENSP00000514688.1:n.*2080_*2081insTT
ENST00000699928.1:c.*382_*383insTT	ENSP00000514693.1:n.*382_*383insTT
ENST00000699951.1:c.*1497_*1498insTT	ENSP00000514706.1:n.*1497_*1498insTT
ENST00000699952.1:c.804-4047_804-4046insTT	ENSP00000514707.1:n.804-4047_804-4046insTT
ENST00000265849.12:c.2444_2445insTT MANE Select	ENSP00000265849.7:p.Val816TrpfsTer2
ENST00000642292.1:c.2039_2040insTT	ENSP00000495524.1:p.Val681TrpfsTer2
ENST00000642456.1:c.2039_2040insTT	ENSP00000493814.1:p.Val681TrpfsTer2
ENST00000643595.1:c.*1843_*1844insTT	ENSP00000494497.1:n.*1843_*1844insTT
ENST00000644110.1:c.2126_2127insTT	ENSP00000496392.1:p.Val710TrpfsTer2
ENST00000265849.11:c.2444_2445insTT	ENSP00000265849.7:p.Val816TrpfsTer2
ENST00000382321.5:c.1241_1242insTT	ENSP00000371758.4:p.Val415TrpfsTer2
ENST00000441476.6:c.2126_2127insTT	ENSP00000392843.2:p.Val710TrpfsTer2
NM_000535.5:c.2444_2445insTT , LRG_161t1:c.2444_2445insTT	NP_000526.1:p.Val816TrpfsTer2
NR_003085.2:n.2526_2527insTT
XM_006715742.2:c.2438_2439insTT	XP_006715805.1:p.Val814TrpfsTer2
XM_006715744.2:c.1511_1512insTT	XP_006715807.1:p.Val505TrpfsTer2
XM_011515427.1:c.2489_2490insTT	XP_011513729.1:p.Val831TrpfsTer2
XM_011515428.1:c.2333_2334insTT	XP_011513730.1:p.Val779TrpfsTer2
XM_011515429.1:c.2126_2127insTT	XP_011513731.1:p.Val710TrpfsTer2
XM_011515430.1:c.2126_2127insTT	XP_011513732.1:p.Val710TrpfsTer2
NM_000535.6:c.2444_2445insTT	NP_000526.2:p.Val816TrpfsTer2
NM_001322003.1:c.2039_2040insTT	NP_001308932.1:p.Val681TrpfsTer2
NM_001322004.1:c.2039_2040insTT	NP_001308933.1:p.Val681TrpfsTer2
NM_001322005.1:c.2039_2040insTT	NP_001308934.1:p.Val681TrpfsTer2
NM_001322006.1:c.2288_2289insTT	NP_001308935.1:p.Val764TrpfsTer2
NM_001322007.1:c.2126_2127insTT	NP_001308936.1:p.Val710TrpfsTer2
NM_001322008.1:c.2126_2127insTT	NP_001308937.1:p.Val710TrpfsTer2
NM_001322009.1:c.2072_2073insTT	NP_001308938.1:p.Val692TrpfsTer2
NM_001322010.1:c.1883_1884insTT	NP_001308939.1:p.Val629TrpfsTer2
NM_001322011.1:c.1511_1512insTT	NP_001308940.1:p.Val505TrpfsTer2
NM_001322012.1:c.1511_1512insTT	NP_001308941.1:p.Val505TrpfsTer2
NM_001322013.1:c.1871_1872insTT	NP_001308942.1:p.Val625TrpfsTer2
NM_001322014.1:c.2477_2478insTT	NP_001308943.1:p.Val827TrpfsTer2
NM_001322015.1:c.2135_2136insTT	NP_001308944.1:p.Val713TrpfsTer2
NR_136154.1:n.2488_2489insTT
XM_006715744.4:c.1511_1512insTT	XP_006715807.1:p.Val505TrpfsTer2
XM_017012342.2:c.1511_1512insTT	XP_016867831.1:p.Val505TrpfsTer2
XM_024446800.1:c.1883_1884insTT	XP_024302568.1:p.Val629TrpfsTer2
NM_000535.7:c.2444_2445insTT MANE Select	NP_000526.2:p.Val816TrpfsTer2
NM_001322003.2:c.2039_2040insTT	NP_001308932.1:p.Val681TrpfsTer2
NM_001322004.2:c.2039_2040insTT	NP_001308933.1:p.Val681TrpfsTer2
NM_001322005.2:c.2039_2040insTT	NP_001308934.1:p.Val681TrpfsTer2
NM_001322006.2:c.2288_2289insTT	NP_001308935.1:p.Val764TrpfsTer2
NM_001322008.2:c.2126_2127insTT	NP_001308937.1:p.Val710TrpfsTer2
NM_001322009.2:c.2072_2073insTT	NP_001308938.1:p.Val692TrpfsTer2
NM_001322010.2:c.1883_1884insTT	NP_001308939.1:p.Val629TrpfsTer2
NM_001322011.2:c.1511_1512insTT	NP_001308940.1:p.Val505TrpfsTer2
NM_001322012.2:c.1511_1512insTT	NP_001308941.1:p.Val505TrpfsTer2
NM_001322013.2:c.1871_1872insTT	NP_001308942.1:p.Val625TrpfsTer2
NM_001322014.2:c.2477_2478insTT	NP_001308943.1:p.Val827TrpfsTer2
NM_001322015.2:c.2135_2136insTT	NP_001308944.1:p.Val713TrpfsTer2
NM_001322007.2:c.2126_2127insTT	NP_001308936.1:p.Val710TrpfsTer2