Canonical Allele Identifier: CA1685255684
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982841_5982842delinsCT , CM000669.2:g.5982841_5982842delinsCT GRCh38
NC_000007.13:g.6022472_6022473delinsCT , CM000669.1:g.6022472_6022473delinsCT GRCh37
NC_000007.12:g.5988998_5988999delinsCT NCBI36
NG_008466.1:g.31265_31266delinsAG , LRG_161:g.31265_31266delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1552_*1553delinsAG ENSP00000514615.2:n.*1552_*1553delinsAG
ENST00000699840.2:c.2153_2154delinsAG ENSP00000514638.2:p.Gln718=
ENST00000699930.2:c.2048_2049delinsAG ENSP00000514695.2:p.Gln683=
ENST00000406569.8:c.1678+4245_1678+4246delinsAG ENSP00000514464.1:n.1678+4245_1678+4246delinsAG
ENST00000644110.2:c.*1750_*1751delinsAG ENSP00000496392.2:n.*1750_*1751delinsAG
ENST00000699752.1:c.2000_2001delinsAG ENSP00000514561.1:p.Gln667=
ENST00000699753.1:c.*1577_*1578delinsAG ENSP00000514562.1:n.*1577_*1578delinsAG
ENST00000699754.1:c.1958_1959delinsAG ENSP00000514563.1:p.Gln653=
ENST00000699755.1:c.*1555_*1556delinsAG ENSP00000514564.1:n.*1555_*1556delinsAG
ENST00000699756.1:c.*1743_*1744delinsAG ENSP00000514565.1:n.*1743_*1744delinsAG
ENST00000699757.1:c.*1413_*1414delinsAG ENSP00000514566.1:n.*1413_*1414delinsAG
ENST00000699758.1:c.*1413_*1414delinsAG ENSP00000514567.1:n.*1413_*1414delinsAG
ENST00000699759.1:n.3010_3011delinsAG
ENST00000699760.1:c.1838_1839delinsAG ENSP00000514568.1:p.Gln613=
ENST00000699761.1:c.1751_1752delinsAG ENSP00000514569.1:p.Gln584=
ENST00000699762.1:c.1583_1584delinsAG ENSP00000514570.1:p.Gln528=
ENST00000699763.1:c.*1246_*1247delinsAG ENSP00000514571.1:n.*1246_*1247delinsAG
ENST00000699764.1:c.*474_*475delinsAG ENSP00000514572.1:n.*474_*475delinsAG
ENST00000699765.1:c.*1252_*1253delinsAG ENSP00000514573.1:n.*1252_*1253delinsAG
ENST00000699766.1:c.2156_2157delinsAG ENSP00000514574.1:p.Gln719=
ENST00000699767.1:c.2156_2157delinsAG ENSP00000514575.1:p.Gln719=
ENST00000699768.1:c.2156_2157delinsAG ENSP00000514576.1:p.Gln719=
ENST00000699811.1:c.1751_1752delinsAG ENSP00000514614.1:p.Gln584=
ENST00000699813.1:n.2269_2270delinsAG
ENST00000699814.1:c.1779_1780delinsAG
ENST00000699815.1:c.*1687_*1688delinsAG ENSP00000514616.1:n.*1687_*1688delinsAG
ENST00000699816.1:c.*1046_*1047delinsAG ENSP00000514617.1:n.*1046_*1047delinsAG
ENST00000699817.1:c.*1750_*1751delinsAG ENSP00000514618.1:n.*1750_*1751delinsAG
ENST00000699818.1:c.1751_1752delinsAG ENSP00000514619.1:p.Gln584=
ENST00000699819.1:c.*1313_*1314delinsAG ENSP00000514620.1:n.*1313_*1314delinsAG
ENST00000699820.1:c.*94_*95delinsAG ENSP00000514621.1:n.*94_*95delinsAG
ENST00000699821.1:c.1751_1752delinsAG ENSP00000514622.1:p.Gln584=
ENST00000699822.1:c.*1608_*1609delinsAG ENSP00000514623.1:n.*1608_*1609delinsAG
ENST00000699823.1:c.1751_1752delinsAG ENSP00000514624.1:p.Gln584=
ENST00000699824.1:c.*1659_*1660delinsAG ENSP00000514625.1:n.*1659_*1660delinsAG
ENST00000699825.1:c.1595_1596delinsAG ENSP00000514626.1:p.Gln532=
ENST00000699826.1:c.*1555_*1556delinsAG ENSP00000514627.1:n.*1555_*1556delinsAG
ENST00000699827.1:c.1988_1989delinsAG ENSP00000514628.1:p.Gln663=
ENST00000699828.1:c.*1246_*1247delinsAG ENSP00000514629.1:n.*1246_*1247delinsAG
ENST00000699833.1:n.3928_3929delinsAG
ENST00000699837.1:c.1751_1752delinsAG ENSP00000514635.1:p.Gln584=
ENST00000699838.1:c.*2056_*2057delinsAG ENSP00000514636.1:n.*2056_*2057delinsAG
ENST00000699839.1:c.2342_2343delinsAG ENSP00000514637.1:p.Gln781=
ENST00000699916.1:c.*1413_*1414delinsAG ENSP00000514684.1:n.*1413_*1414delinsAG
ENST00000699917.1:c.*1605_*1606delinsAG ENSP00000514685.1:n.*1605_*1606delinsAG
ENST00000699918.1:c.*1657_*1658delinsAG ENSP00000514686.1:n.*1657_*1658delinsAG
ENST00000699919.1:c.*1743_*1744delinsAG ENSP00000514687.1:n.*1743_*1744delinsAG
ENST00000699920.1:c.*1792_*1793delinsAG ENSP00000514688.1:n.*1792_*1793delinsAG
ENST00000699928.1:c.*94_*95delinsAG ENSP00000514693.1:n.*94_*95delinsAG
ENST00000699951.1:c.*1252_*1253delinsAG ENSP00000514706.1:n.*1252_*1253delinsAG
ENST00000699952.1:c.804-9300_804-9299delinsAG ENSP00000514707.1:n.804-9300_804-9299delinsAG
ENST00000265849.12:c.2156_2157delinsAG MANE Select ENSP00000265849.7:p.Gln719=
ENST00000642292.1:c.1751_1752delinsAG ENSP00000495524.1:p.Gln584=
ENST00000642456.1:c.1751_1752delinsAG ENSP00000493814.1:p.Gln584=
ENST00000643595.1:c.*1555_*1556delinsAG ENSP00000494497.1:n.*1555_*1556delinsAG
ENST00000644110.1:c.1838_1839delinsAG ENSP00000496392.1:p.Gln613=
ENST00000265849.11:c.2156_2157delinsAG ENSP00000265849.7:p.Gln719=
ENST00000382321.5:c.953_954delinsAG ENSP00000371758.4:p.Gln318=
ENST00000406569.7:n.1678+4245_1678+4246delinsAG
ENST00000441476.6:c.1838_1839delinsAG ENSP00000392843.2:p.Gln613=
NM_000535.5:c.2156_2157delinsAG , LRG_161t1:c.2156_2157delinsAG NP_000526.1:p.Gln719=
NR_003085.2:n.2238_2239delinsAG
XM_006715742.2:c.2150_2151delinsAG XP_006715805.1:p.Gln717=
XM_006715744.2:c.1223_1224delinsAG XP_006715807.1:p.Gln408=
XM_011515427.1:c.2201_2202delinsAG XP_011513729.1:p.Gln734=
XM_011515428.1:c.2045_2046delinsAG XP_011513730.1:p.Gln682=
XM_011515429.1:c.1838_1839delinsAG XP_011513731.1:p.Gln613=
XM_011515430.1:c.1838_1839delinsAG XP_011513732.1:p.Gln613=
NM_000535.6:c.2156_2157delinsAG NP_000526.2:p.Gln719=
NM_001322003.1:c.1751_1752delinsAG NP_001308932.1:p.Gln584=
NM_001322004.1:c.1751_1752delinsAG NP_001308933.1:p.Gln584=
NM_001322005.1:c.1751_1752delinsAG NP_001308934.1:p.Gln584=
NM_001322006.1:c.2000_2001delinsAG NP_001308935.1:p.Gln667=
NM_001322007.1:c.1838_1839delinsAG NP_001308936.1:p.Gln613=
NM_001322008.1:c.1838_1839delinsAG NP_001308937.1:p.Gln613=
NM_001322009.1:c.1751_1752delinsAG NP_001308938.1:p.Gln584=
NM_001322010.1:c.1595_1596delinsAG NP_001308939.1:p.Gln532=
NM_001322011.1:c.1223_1224delinsAG NP_001308940.1:p.Gln408=
NM_001322012.1:c.1223_1224delinsAG NP_001308941.1:p.Gln408=
NM_001322013.1:c.1583_1584delinsAG NP_001308942.1:p.Gln528=
NM_001322014.1:c.2156_2157delinsAG NP_001308943.1:p.Gln719=
NM_001322015.1:c.1847_1848delinsAG NP_001308944.1:p.Gln616=
NR_136154.1:n.2243_2244delinsAG
XM_006715744.4:c.1223_1224delinsAG XP_006715807.1:p.Gln408=
XM_017012342.2:c.1223_1224delinsAG XP_016867831.1:p.Gln408=
XM_024446800.1:c.1595_1596delinsAG XP_024302568.1:p.Gln532=
NM_000535.7:c.2156_2157delinsAG MANE Select NP_000526.2:p.Gln719=
NM_001322003.2:c.1751_1752delinsAG NP_001308932.1:p.Gln584=
NM_001322004.2:c.1751_1752delinsAG NP_001308933.1:p.Gln584=
NM_001322005.2:c.1751_1752delinsAG NP_001308934.1:p.Gln584=
NM_001322006.2:c.2000_2001delinsAG NP_001308935.1:p.Gln667=
NM_001322008.2:c.1838_1839delinsAG NP_001308937.1:p.Gln613=
NM_001322009.2:c.1751_1752delinsAG NP_001308938.1:p.Gln584=
NM_001322010.2:c.1595_1596delinsAG NP_001308939.1:p.Gln532=
NM_001322011.2:c.1223_1224delinsAG NP_001308940.1:p.Gln408=
NM_001322012.2:c.1223_1224delinsAG NP_001308941.1:p.Gln408=
NM_001322013.2:c.1583_1584delinsAG NP_001308942.1:p.Gln528=
NM_001322014.2:c.2156_2157delinsAG NP_001308943.1:p.Gln719=
NM_001322015.2:c.1847_1848delinsAG NP_001308944.1:p.Gln616=
NM_001322007.2:c.1838_1839delinsAG NP_001308936.1:p.Gln613=