Canonical Allele Identifier: CA161562
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91317
dbSNP Id: rs63750250
gnomAD v2: 7-6026564-A-AT
gnomAD v3: 7-5986933-A-AT
gnomAD v4: 7-5986933-A-AT

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986937dup , CM000669.2:g.5986937dup GRCh38
NC_000007.13:g.6026568dup , CM000669.1:g.6026568dup GRCh37
NC_000007.12:g.5993094dup NCBI36
NG_008466.1:g.27173dup , LRG_161:g.27173dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1227dup ENSP00000514615.2:n.*1227dup
ENST00000699840.2:c.1828dup ENSP00000514638.2:p.Ile610AsnfsTer2
ENST00000699930.2:c.1723dup ENSP00000514695.2:p.Ile575AsnfsTer2
ENST00000406569.8:c.1678+153dup ENSP00000514464.1:n.1678+153dup
ENST00000644110.2:c.*1425dup ENSP00000496392.2:n.*1425dup
ENST00000699752.1:c.1675dup ENSP00000514561.1:p.Ile559AsnfsTer2
ENST00000699753.1:c.*1252dup ENSP00000514562.1:n.*1252dup
ENST00000699754.1:c.1633dup ENSP00000514563.1:p.Ile545AsnfsTer2
ENST00000699755.1:c.*1230dup ENSP00000514564.1:n.*1230dup
ENST00000699756.1:c.*1418dup ENSP00000514565.1:n.*1418dup
ENST00000699757.1:c.*1088dup ENSP00000514566.1:n.*1088dup
ENST00000699758.1:c.*1088dup ENSP00000514567.1:n.*1088dup
ENST00000699759.1:n.2685dup
ENST00000699760.1:c.1513dup ENSP00000514568.1:p.Ile505AsnfsTer2
ENST00000699761.1:c.1426dup ENSP00000514569.1:p.Ile476AsnfsTer2
ENST00000699762.1:c.1258dup ENSP00000514570.1:p.Ile420AsnfsTer2
ENST00000699763.1:c.*921dup ENSP00000514571.1:n.*921dup
ENST00000699764.1:c.*149dup ENSP00000514572.1:n.*149dup
ENST00000699765.1:c.*927dup ENSP00000514573.1:n.*927dup
ENST00000699766.1:c.1831dup ENSP00000514574.1:p.Ile611AsnfsTer2
ENST00000699767.1:c.1831dup ENSP00000514575.1:p.Ile611AsnfsTer2
ENST00000699768.1:c.1831dup ENSP00000514576.1:p.Ile611AsnfsTer2
ENST00000699811.1:c.1426dup ENSP00000514614.1:p.Ile476AsnfsTer2
ENST00000699813.1:n.1944dup
ENST00000699814.1:c.1454dup
ENST00000699815.1:c.*1362dup ENSP00000514616.1:n.*1362dup
ENST00000699816.1:c.*721dup ENSP00000514617.1:n.*721dup
ENST00000699817.1:c.*1425dup ENSP00000514618.1:n.*1425dup
ENST00000699818.1:c.1426dup ENSP00000514619.1:p.Ile476AsnfsTer2
ENST00000699819.1:c.*988dup ENSP00000514620.1:n.*988dup
ENST00000699820.1:c.1144+2866dup ENSP00000514621.1:n.1144+2866dup
ENST00000699821.1:c.1426dup ENSP00000514622.1:p.Ile476AsnfsTer2
ENST00000699822.1:c.*1283dup ENSP00000514623.1:n.*1283dup
ENST00000699823.1:c.1426dup ENSP00000514624.1:p.Ile476AsnfsTer2
ENST00000699824.1:c.*1334dup ENSP00000514625.1:n.*1334dup
ENST00000699825.1:c.1270dup ENSP00000514626.1:p.Ile424AsnfsTer2
ENST00000699826.1:c.*1230dup ENSP00000514627.1:n.*1230dup
ENST00000699827.1:c.1663dup ENSP00000514628.1:p.Ile555AsnfsTer2
ENST00000699828.1:c.*921dup ENSP00000514629.1:n.*921dup
ENST00000699833.1:n.3603dup
ENST00000699837.1:c.1426dup ENSP00000514635.1:p.Ile476AsnfsTer2
ENST00000699838.1:c.*1731dup ENSP00000514636.1:n.*1731dup
ENST00000699839.1:c.2017dup ENSP00000514637.1:p.Ile673AsnfsTer2
ENST00000699916.1:c.*1088dup ENSP00000514684.1:n.*1088dup
ENST00000699917.1:c.*1280dup ENSP00000514685.1:n.*1280dup
ENST00000699918.1:c.*1332dup ENSP00000514686.1:n.*1332dup
ENST00000699919.1:c.*1418dup ENSP00000514687.1:n.*1418dup
ENST00000699920.1:c.*1467dup ENSP00000514688.1:n.*1467dup
ENST00000699928.1:c.989-3943dup ENSP00000514693.1:n.989-3943dup
ENST00000699951.1:c.*927dup ENSP00000514706.1:n.*927dup
ENST00000699952.1:c.803+10392dup ENSP00000514707.1:n.803+10392dup
ENST00000265849.12:c.1831dup MANE Select ENSP00000265849.7:p.Ile611AsnfsTer2
ENST00000642292.1:c.1426dup ENSP00000495524.1:p.Ile476AsnfsTer2
ENST00000642456.1:c.1426dup ENSP00000493814.1:p.Ile476AsnfsTer2
ENST00000643595.1:c.*1230dup ENSP00000494497.1:n.*1230dup
ENST00000644110.1:c.1513dup ENSP00000496392.1:p.Ile505AsnfsTer2
ENST00000265849.11:c.1831dup ENSP00000265849.7:p.Ile611AsnfsTer2
ENST00000382321.5:c.804-3943dup ENSP00000371758.4:n.804-3943dup
ENST00000406569.7:n.1678+153dup
ENST00000441476.6:c.1513dup ENSP00000392843.2:p.Ile505AsnfsTer2
ENST00000469652.1:n.63-4029dup
NM_000535.5:c.1831dup , LRG_161t1:c.1831dup NP_000526.1:p.Ile611AsnfsTer2
NR_003085.2:n.1913dup
XM_006715742.2:c.1825dup XP_006715805.1:p.Ile609AsnfsTer2
XM_006715744.2:c.898dup XP_006715807.1:p.Ile300AsnfsTer2
XM_011515427.1:c.1876dup XP_011513729.1:p.Ile626AsnfsTer2
XM_011515428.1:c.1720dup XP_011513730.1:p.Ile574AsnfsTer2
XM_011515429.1:c.1513dup XP_011513731.1:p.Ile505AsnfsTer2
XM_011515430.1:c.1513dup XP_011513732.1:p.Ile505AsnfsTer2
NM_000535.6:c.1831dup NP_000526.2:p.Ile611AsnfsTer2
NM_001322003.1:c.1426dup NP_001308932.1:p.Ile476AsnfsTer2
NM_001322004.1:c.1426dup NP_001308933.1:p.Ile476AsnfsTer2
NM_001322005.1:c.1426dup NP_001308934.1:p.Ile476AsnfsTer2
NM_001322006.1:c.1675dup NP_001308935.1:p.Ile559AsnfsTer2
NM_001322007.1:c.1513dup NP_001308936.1:p.Ile505AsnfsTer2
NM_001322008.1:c.1513dup NP_001308937.1:p.Ile505AsnfsTer2
NM_001322009.1:c.1426dup NP_001308938.1:p.Ile476AsnfsTer2
NM_001322010.1:c.1270dup NP_001308939.1:p.Ile424AsnfsTer2
NM_001322011.1:c.898dup NP_001308940.1:p.Ile300AsnfsTer2
NM_001322012.1:c.898dup NP_001308941.1:p.Ile300AsnfsTer2
NM_001322013.1:c.1258dup NP_001308942.1:p.Ile420AsnfsTer2
NM_001322014.1:c.1831dup NP_001308943.1:p.Ile611AsnfsTer2
NM_001322015.1:c.1522dup NP_001308944.1:p.Ile508AsnfsTer2
NR_136154.1:n.1918dup
XM_006715744.4:c.898dup XP_006715807.1:p.Ile300AsnfsTer2
XM_017012342.2:c.898dup XP_016867831.1:p.Ile300AsnfsTer2
XM_024446800.1:c.1270dup XP_024302568.1:p.Ile424AsnfsTer2
NM_000535.7:c.1831dup MANE Select NP_000526.2:p.Ile611AsnfsTer2
NM_001322003.2:c.1426dup NP_001308932.1:p.Ile476AsnfsTer2
NM_001322004.2:c.1426dup NP_001308933.1:p.Ile476AsnfsTer2
NM_001322005.2:c.1426dup NP_001308934.1:p.Ile476AsnfsTer2
NM_001322006.2:c.1675dup NP_001308935.1:p.Ile559AsnfsTer2
NM_001322008.2:c.1513dup NP_001308937.1:p.Ile505AsnfsTer2
NM_001322009.2:c.1426dup NP_001308938.1:p.Ile476AsnfsTer2
NM_001322010.2:c.1270dup NP_001308939.1:p.Ile424AsnfsTer2
NM_001322011.2:c.898dup NP_001308940.1:p.Ile300AsnfsTer2
NM_001322012.2:c.898dup NP_001308941.1:p.Ile300AsnfsTer2
NM_001322013.2:c.1258dup NP_001308942.1:p.Ile420AsnfsTer2
NM_001322014.2:c.1831dup NP_001308943.1:p.Ile611AsnfsTer2
NM_001322015.2:c.1522dup NP_001308944.1:p.Ile508AsnfsTer2
NM_001322007.2:c.1513dup NP_001308936.1:p.Ile505AsnfsTer2