Canonical Allele Identifier: CA2580076835
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785552
ClinVar RCV Id: RCV002422301

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982917_5982918delinsAT , CM000669.2:g.5982917_5982918delinsAT GRCh38
NC_000007.13:g.6022548_6022549delinsAT , CM000669.1:g.6022548_6022549delinsAT GRCh37
NC_000007.12:g.5989074_5989075delinsAT NCBI36
NG_008466.1:g.31189_31190delinsAT , LRG_161:g.31189_31190delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1476_*1477delinsAT ENSP00000514615.2:n.*1476_*1477delinsAT
ENST00000699840.2:c.2077_2078delinsAT ENSP00000514638.2:p.Asp693Ile
ENST00000699930.2:c.1972_1973delinsAT ENSP00000514695.2:p.Asp658Ile
ENST00000406569.8:c.1678+4169_1678+4170delinsAT ENSP00000514464.1:n.1678+4169_1678+4170delinsAT
ENST00000644110.2:c.*1674_*1675delinsAT ENSP00000496392.2:n.*1674_*1675delinsAT
ENST00000699752.1:c.1924_1925delinsAT ENSP00000514561.1:p.Asp642Ile
ENST00000699753.1:c.*1501_*1502delinsAT ENSP00000514562.1:n.*1501_*1502delinsAT
ENST00000699754.1:c.1882_1883delinsAT ENSP00000514563.1:p.Asp628Ile
ENST00000699755.1:c.*1479_*1480delinsAT ENSP00000514564.1:n.*1479_*1480delinsAT
ENST00000699756.1:c.*1667_*1668delinsAT ENSP00000514565.1:n.*1667_*1668delinsAT
ENST00000699757.1:c.*1337_*1338delinsAT ENSP00000514566.1:n.*1337_*1338delinsAT
ENST00000699758.1:c.*1337_*1338delinsAT ENSP00000514567.1:n.*1337_*1338delinsAT
ENST00000699759.1:n.2934_2935delinsAT
ENST00000699760.1:c.1762_1763delinsAT ENSP00000514568.1:p.Asp588Ile
ENST00000699761.1:c.1675_1676delinsAT ENSP00000514569.1:p.Asp559Ile
ENST00000699762.1:c.1507_1508delinsAT ENSP00000514570.1:p.Asp503Ile
ENST00000699763.1:c.*1170_*1171delinsAT ENSP00000514571.1:n.*1170_*1171delinsAT
ENST00000699764.1:c.*398_*399delinsAT ENSP00000514572.1:n.*398_*399delinsAT
ENST00000699765.1:c.*1176_*1177delinsAT ENSP00000514573.1:n.*1176_*1177delinsAT
ENST00000699766.1:c.2080_2081delinsAT ENSP00000514574.1:p.Asp694Ile
ENST00000699767.1:c.2080_2081delinsAT ENSP00000514575.1:p.Asp694Ile
ENST00000699768.1:c.2080_2081delinsAT ENSP00000514576.1:p.Asp694Ile
ENST00000699811.1:c.1675_1676delinsAT ENSP00000514614.1:p.Asp559Ile
ENST00000699813.1:n.2193_2194delinsAT
ENST00000699814.1:c.1703_1704delinsAT
ENST00000699815.1:c.*1611_*1612delinsAT ENSP00000514616.1:n.*1611_*1612delinsAT
ENST00000699816.1:c.*970_*971delinsAT ENSP00000514617.1:n.*970_*971delinsAT
ENST00000699817.1:c.*1674_*1675delinsAT ENSP00000514618.1:n.*1674_*1675delinsAT
ENST00000699818.1:c.1675_1676delinsAT ENSP00000514619.1:p.Asp559Ile
ENST00000699819.1:c.*1237_*1238delinsAT ENSP00000514620.1:n.*1237_*1238delinsAT
ENST00000699820.1:c.*18_*19delinsAT ENSP00000514621.1:n.*18_*19delinsAT
ENST00000699821.1:c.1675_1676delinsAT ENSP00000514622.1:p.Asp559Ile
ENST00000699822.1:c.*1532_*1533delinsAT ENSP00000514623.1:n.*1532_*1533delinsAT
ENST00000699823.1:c.1675_1676delinsAT ENSP00000514624.1:p.Asp559Ile
ENST00000699824.1:c.*1583_*1584delinsAT ENSP00000514625.1:n.*1583_*1584delinsAT
ENST00000699825.1:c.1519_1520delinsAT ENSP00000514626.1:p.Asp507Ile
ENST00000699826.1:c.*1479_*1480delinsAT ENSP00000514627.1:n.*1479_*1480delinsAT
ENST00000699827.1:c.1912_1913delinsAT ENSP00000514628.1:p.Asp638Ile
ENST00000699828.1:c.*1170_*1171delinsAT ENSP00000514629.1:n.*1170_*1171delinsAT
ENST00000699833.1:n.3852_3853delinsAT
ENST00000699837.1:c.1675_1676delinsAT ENSP00000514635.1:p.Asp559Ile
ENST00000699838.1:c.*1980_*1981delinsAT ENSP00000514636.1:n.*1980_*1981delinsAT
ENST00000699839.1:c.2266_2267delinsAT ENSP00000514637.1:p.Asp756Ile
ENST00000699916.1:c.*1337_*1338delinsAT ENSP00000514684.1:n.*1337_*1338delinsAT
ENST00000699917.1:c.*1529_*1530delinsAT ENSP00000514685.1:n.*1529_*1530delinsAT
ENST00000699918.1:c.*1581_*1582delinsAT ENSP00000514686.1:n.*1581_*1582delinsAT
ENST00000699919.1:c.*1667_*1668delinsAT ENSP00000514687.1:n.*1667_*1668delinsAT
ENST00000699920.1:c.*1716_*1717delinsAT ENSP00000514688.1:n.*1716_*1717delinsAT
ENST00000699928.1:c.*18_*19delinsAT ENSP00000514693.1:n.*18_*19delinsAT
ENST00000699951.1:c.*1176_*1177delinsAT ENSP00000514706.1:n.*1176_*1177delinsAT
ENST00000699952.1:c.804-9376_804-9375delinsAT ENSP00000514707.1:n.804-9376_804-9375delinsAT
ENST00000265849.12:c.2080_2081delinsAT MANE Select ENSP00000265849.7:p.Asp694Ile
ENST00000642292.1:c.1675_1676delinsAT ENSP00000495524.1:p.Asp559Ile
ENST00000642456.1:c.1675_1676delinsAT ENSP00000493814.1:p.Asp559Ile
ENST00000643595.1:c.*1479_*1480delinsAT ENSP00000494497.1:n.*1479_*1480delinsAT
ENST00000644110.1:c.1762_1763delinsAT ENSP00000496392.1:p.Asp588Ile
ENST00000265849.11:c.2080_2081delinsAT ENSP00000265849.7:p.Asp694Ile
ENST00000382321.5:c.877_878delinsAT ENSP00000371758.4:p.Asp293Ile
ENST00000406569.7:n.1678+4169_1678+4170delinsAT
ENST00000441476.6:c.1762_1763delinsAT ENSP00000392843.2:p.Asp588Ile
ENST00000469652.1:n.63-13_63-12delinsAT
NM_000535.5:c.2080_2081delinsAT , LRG_161t1:c.2080_2081delinsAT NP_000526.1:p.Asp694Ile
NR_003085.2:n.2162_2163delinsAT
XM_006715742.2:c.2074_2075delinsAT XP_006715805.1:p.Asp692Ile
XM_006715744.2:c.1147_1148delinsAT XP_006715807.1:p.Asp383Ile
XM_011515427.1:c.2125_2126delinsAT XP_011513729.1:p.Asp709Ile
XM_011515428.1:c.1969_1970delinsAT XP_011513730.1:p.Asp657Ile
XM_011515429.1:c.1762_1763delinsAT XP_011513731.1:p.Asp588Ile
XM_011515430.1:c.1762_1763delinsAT XP_011513732.1:p.Asp588Ile
NM_000535.6:c.2080_2081delinsAT NP_000526.2:p.Asp694Ile
NM_001322003.1:c.1675_1676delinsAT NP_001308932.1:p.Asp559Ile
NM_001322004.1:c.1675_1676delinsAT NP_001308933.1:p.Asp559Ile
NM_001322005.1:c.1675_1676delinsAT NP_001308934.1:p.Asp559Ile
NM_001322006.1:c.1924_1925delinsAT NP_001308935.1:p.Asp642Ile
NM_001322007.1:c.1762_1763delinsAT NP_001308936.1:p.Asp588Ile
NM_001322008.1:c.1762_1763delinsAT NP_001308937.1:p.Asp588Ile
NM_001322009.1:c.1675_1676delinsAT NP_001308938.1:p.Asp559Ile
NM_001322010.1:c.1519_1520delinsAT NP_001308939.1:p.Asp507Ile
NM_001322011.1:c.1147_1148delinsAT NP_001308940.1:p.Asp383Ile
NM_001322012.1:c.1147_1148delinsAT NP_001308941.1:p.Asp383Ile
NM_001322013.1:c.1507_1508delinsAT NP_001308942.1:p.Asp503Ile
NM_001322014.1:c.2080_2081delinsAT NP_001308943.1:p.Asp694Ile
NM_001322015.1:c.1771_1772delinsAT NP_001308944.1:p.Asp591Ile
NR_136154.1:n.2167_2168delinsAT
XM_006715744.4:c.1147_1148delinsAT XP_006715807.1:p.Asp383Ile
XM_017012342.2:c.1147_1148delinsAT XP_016867831.1:p.Asp383Ile
XM_024446800.1:c.1519_1520delinsAT XP_024302568.1:p.Asp507Ile
NM_000535.7:c.2080_2081delinsAT MANE Select NP_000526.2:p.Asp694Ile
NM_001322003.2:c.1675_1676delinsAT NP_001308932.1:p.Asp559Ile
NM_001322004.2:c.1675_1676delinsAT NP_001308933.1:p.Asp559Ile
NM_001322005.2:c.1675_1676delinsAT NP_001308934.1:p.Asp559Ile
NM_001322006.2:c.1924_1925delinsAT NP_001308935.1:p.Asp642Ile
NM_001322008.2:c.1762_1763delinsAT NP_001308937.1:p.Asp588Ile
NM_001322009.2:c.1675_1676delinsAT NP_001308938.1:p.Asp559Ile
NM_001322010.2:c.1519_1520delinsAT NP_001308939.1:p.Asp507Ile
NM_001322011.2:c.1147_1148delinsAT NP_001308940.1:p.Asp383Ile
NM_001322012.2:c.1147_1148delinsAT NP_001308941.1:p.Asp383Ile
NM_001322013.2:c.1507_1508delinsAT NP_001308942.1:p.Asp503Ile
NM_001322014.2:c.2080_2081delinsAT NP_001308943.1:p.Asp694Ile
NM_001322015.2:c.1771_1772delinsAT NP_001308944.1:p.Asp591Ile
NM_001322007.2:c.1762_1763delinsAT NP_001308936.1:p.Asp588Ile