Canonical Allele Identifier: CA011107
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91333
ClinVar RCV Id: RCV000076848 RCV000409351 RCV000575018 RCV001239541
dbSNP Id: rs267608173
gnomAD v4: 7-5978624-ATTCT-A
MyVariant Identifiers: chr7:g.6018256_6018259del (hg19) chr7:g.5978625_5978628del (hg38)
PubMed: PMID:16116158 PMID:16616355
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5978629_5978632del , CM000669.2:g.5978629_5978632del GRCh38
NC_000007.13:g.6018260_6018263del , CM000669.1:g.6018260_6018263del GRCh37
NC_000007.12:g.5984786_5984789del NCBI36
NG_008466.1:g.35479_35482del , LRG_161:g.35479_35482del

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1639_*1642del ENSP00000514615.2:n.*1639_*1642del
ENST00000699840.2:c.2240_2243del ENSP00000514638.2:p.Lys747MetfsTer19
ENST00000699930.2:c.2135_2138del ENSP00000514695.2:p.Lys712MetfsTer19
ENST00000406569.8:c.1679-914_1679-911del ENSP00000514464.1:n.1679-914_1679-911del
ENST00000644110.2:c.*1837_*1840del ENSP00000496392.2:n.*1837_*1840del
ENST00000699752.1:c.2087_2090del ENSP00000514561.1:p.Lys696MetfsTer19
ENST00000699753.1:c.*1664_*1667del ENSP00000514562.1:n.*1664_*1667del
ENST00000699754.1:c.2045_2048del ENSP00000514563.1:p.Lys682MetfsTer19
ENST00000699755.1:c.*1642_*1645del ENSP00000514564.1:n.*1642_*1645del
ENST00000699756.1:c.*1830_*1833del ENSP00000514565.1:n.*1830_*1833del
ENST00000699757.1:c.*1500_*1503del ENSP00000514566.1:n.*1500_*1503del
ENST00000699758.1:c.*1500_*1503del ENSP00000514567.1:n.*1500_*1503del
ENST00000699759.1:n.3097_3100del
ENST00000699760.1:c.1925_1928del ENSP00000514568.1:p.Lys642MetfsTer19
ENST00000699761.1:c.1838_1841del ENSP00000514569.1:p.Lys613MetfsTer19
ENST00000699762.1:c.1670_1673del ENSP00000514570.1:p.Lys557MetfsTer19
ENST00000699763.1:c.*1333_*1336del ENSP00000514571.1:n.*1333_*1336del
ENST00000699764.1:c.*561_*564del ENSP00000514572.1:n.*561_*564del
ENST00000699765.1:c.*1271-871_*1271-868del ENSP00000514573.1:n.*1271-871_*1271-868de...
ENST00000699766.1:c.2243_2246del ENSP00000514574.1:p.Lys748MetfsTer21
ENST00000699767.1:c.2243_2246del ENSP00000514575.1:p.Lys748MetfsTer11
ENST00000699768.1:c.2175-914_2175-911del ENSP00000514576.1:n.2175-914_2175-911del
ENST00000699811.1:c.1838_1841del ENSP00000514614.1:p.Lys613MetfsTer19
ENST00000699813.1:n.2356_2359del
ENST00000699814.1:c.1866_1869del
ENST00000699815.1:c.*1774_*1777del ENSP00000514616.1:n.*1774_*1777del
ENST00000699816.1:c.*1133_*1136del ENSP00000514617.1:n.*1133_*1136del
ENST00000699817.1:c.*1837_*1840del ENSP00000514618.1:n.*1837_*1840del
ENST00000699818.1:c.1838_1841del ENSP00000514619.1:p.Lys613MetfsTer19
ENST00000699819.1:c.*1400_*1403del ENSP00000514620.1:n.*1400_*1403del
ENST00000699820.1:c.*181_*184del ENSP00000514621.1:n.*181_*184del
ENST00000699821.1:c.1838_1841del ENSP00000514622.1:p.Lys613MetfsTer21
ENST00000699822.1:c.*1695_*1698del ENSP00000514623.1:n.*1695_*1698del
ENST00000699823.1:c.1838_1841del ENSP00000514624.1:p.Lys613MetfsTer19
ENST00000699824.1:c.*1746_*1749del ENSP00000514625.1:n.*1746_*1749del
ENST00000699825.1:c.1682_1685del ENSP00000514626.1:p.Lys561MetfsTer19
ENST00000699826.1:c.*1642_*1645del ENSP00000514627.1:n.*1642_*1645del
ENST00000699827.1:c.2075_2078del ENSP00000514628.1:p.Lys692MetfsTer19
ENST00000699828.1:c.*1333_*1336del ENSP00000514629.1:n.*1333_*1336del
ENST00000699833.1:n.4015_4018del
ENST00000699837.1:c.1838_1841del ENSP00000514635.1:p.Lys613MetfsTer19
ENST00000699838.1:c.*2143_*2146del ENSP00000514636.1:n.*2143_*2146del
ENST00000699839.1:c.2429_2432del ENSP00000514637.1:p.Lys810MetfsTer19
ENST00000699916.1:c.*1500_*1503del ENSP00000514684.1:n.*1500_*1503del
ENST00000699917.1:c.*1692_*1695del ENSP00000514685.1:n.*1692_*1695del
ENST00000699918.1:c.*1744_*1747del ENSP00000514686.1:n.*1744_*1747del
ENST00000699919.1:c.*1830_*1833del ENSP00000514687.1:n.*1830_*1833del
ENST00000699920.1:c.*1879_*1882del ENSP00000514688.1:n.*1879_*1882del
ENST00000699928.1:c.*181_*184del ENSP00000514693.1:n.*181_*184del
ENST00000699951.1:c.*1339_*1342del ENSP00000514706.1:n.*1339_*1342del
ENST00000699952.1:c.804-5086_804-5083del ENSP00000514707.1:n.804-5086_804-5083del
ENST00000265849.12:c.2243_2246del MANE Select ENSP00000265849.7:p.Lys748MetfsTer19
ENST00000642292.1:c.1838_1841del ENSP00000495524.1:p.Lys613MetfsTer19
ENST00000642456.1:c.1838_1841del ENSP00000493814.1:p.Lys613MetfsTer19
ENST00000643595.1:c.*1642_*1645del ENSP00000494497.1:n.*1642_*1645del
ENST00000644110.1:c.1925_1928del ENSP00000496392.1:p.Lys642MetfsTer19
ENST00000265849.11:c.2243_2246del ENSP00000265849.7:p.Lys748MetfsTer19
ENST00000382321.5:c.1040_1043del ENSP00000371758.4:p.Lys347MetfsTer19
ENST00000406569.7:n.1679-914_1679-911del
ENST00000441476.6:c.1925_1928del ENSP00000392843.2:p.Lys642MetfsTer19
NM_000535.5:c.2243_2246del , LRG_161t1:c.2243_2246del NP_000526.1:p.Lys748MetfsTer19
NR_003085.2:n.2325_2328del
XM_006715742.2:c.2237_2240del XP_006715805.1:p.Lys746MetfsTer19
XM_006715744.2:c.1310_1313del XP_006715807.1:p.Lys437MetfsTer19
XM_011515427.1:c.2288_2291del XP_011513729.1:p.Lys763MetfsTer19
XM_011515428.1:c.2132_2135del XP_011513730.1:p.Lys711MetfsTer19
XM_011515429.1:c.1925_1928del XP_011513731.1:p.Lys642MetfsTer19
XM_011515430.1:c.1925_1928del XP_011513732.1:p.Lys642MetfsTer19
NM_000535.6:c.2243_2246del NP_000526.2:p.Lys748MetfsTer19
NM_001322003.1:c.1838_1841del NP_001308932.1:p.Lys613MetfsTer19
NM_001322004.1:c.1838_1841del NP_001308933.1:p.Lys613MetfsTer19
NM_001322005.1:c.1838_1841del NP_001308934.1:p.Lys613MetfsTer19
NM_001322006.1:c.2087_2090del NP_001308935.1:p.Lys696MetfsTer19
NM_001322007.1:c.1925_1928del NP_001308936.1:p.Lys642MetfsTer19
NM_001322008.1:c.1925_1928del NP_001308937.1:p.Lys642MetfsTer19
NM_001322009.1:c.1838_1841del NP_001308938.1:p.Lys613MetfsTer21
NM_001322010.1:c.1682_1685del NP_001308939.1:p.Lys561MetfsTer19
NM_001322011.1:c.1310_1313del NP_001308940.1:p.Lys437MetfsTer19
NM_001322012.1:c.1310_1313del NP_001308941.1:p.Lys437MetfsTer19
NM_001322013.1:c.1670_1673del NP_001308942.1:p.Lys557MetfsTer19
NM_001322014.1:c.2243_2246del NP_001308943.1:p.Lys748MetfsTer21
NM_001322015.1:c.1934_1937del NP_001308944.1:p.Lys645MetfsTer19
NR_136154.1:n.2330_2333del
XM_006715744.4:c.1310_1313del XP_006715807.1:p.Lys437MetfsTer19
XM_017012342.2:c.1310_1313del XP_016867831.1:p.Lys437MetfsTer19
XM_024446800.1:c.1682_1685del XP_024302568.1:p.Lys561MetfsTer19
NM_000535.7:c.2243_2246del MANE Select NP_000526.2:p.Lys748MetfsTer19
NM_001322003.2:c.1838_1841del NP_001308932.1:p.Lys613MetfsTer19
NM_001322004.2:c.1838_1841del NP_001308933.1:p.Lys613MetfsTer19
NM_001322005.2:c.1838_1841del NP_001308934.1:p.Lys613MetfsTer19
NM_001322006.2:c.2087_2090del NP_001308935.1:p.Lys696MetfsTer19
NM_001322008.2:c.1925_1928del NP_001308937.1:p.Lys642MetfsTer19
NM_001322009.2:c.1838_1841del NP_001308938.1:p.Lys613MetfsTer21
NM_001322010.2:c.1682_1685del NP_001308939.1:p.Lys561MetfsTer19
NM_001322011.2:c.1310_1313del NP_001308940.1:p.Lys437MetfsTer19
NM_001322012.2:c.1310_1313del NP_001308941.1:p.Lys437MetfsTer19
NM_001322013.2:c.1670_1673del NP_001308942.1:p.Lys557MetfsTer19
NM_001322014.2:c.2243_2246del NP_001308943.1:p.Lys748MetfsTer21
NM_001322015.2:c.1934_1937del NP_001308944.1:p.Lys645MetfsTer19
NM_001322007.2:c.1925_1928del NP_001308936.1:p.Lys642MetfsTer19
Search 100 bp 5'
Search 100 bp 3'