Canonical Allele Identifier: CA915944830
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 689355
dbSNP Id: rs756653193

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5997387_5997388insCTTCA , CM000669.2:g.5997387_5997388insCTTCA GRCh38
NC_000007.13:g.6037018_6037019insCTTCA , CM000669.1:g.6037018_6037019insCTTCA GRCh37
NC_000007.12:g.6003544_6003545insCTTCA NCBI36
NG_008466.1:g.16719_16720insTGAAG , LRG_161:g.16719_16720insTGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*299+1720_*299+1721insTGAAG ENSP00000514615.2:n.*299+1720_*299+1721insTGAAG
ENST00000699840.2:c.738_739insTGAAG ENSP00000514638.2:p.Ser247Ter
ENST00000699930.2:c.633_634insTGAAG ENSP00000514695.2:p.Ser212Ter
ENST00000406569.8:c.741_742insTGAAG ENSP00000514464.1:p.Ser248Ter
ENST00000644110.2:c.*335_*336insTGAAG ENSP00000496392.2:n.*335_*336insTGAAG
ENST00000699752.1:c.741_742insTGAAG ENSP00000514561.1:p.Ser248Ter
ENST00000699753.1:c.*140_*141insTGAAG ENSP00000514562.1:n.*140_*141insTGAAG
ENST00000699754.1:c.705+1720_705+1721insTGAAG ENSP00000514563.1:n.705+1720_705+1721insTGAAG
ENST00000699755.1:c.*140_*141insTGAAG ENSP00000514564.1:n.*140_*141insTGAAG
ENST00000699756.1:c.*328_*329insTGAAG ENSP00000514565.1:n.*328_*329insTGAAG
ENST00000699757.1:c.190_191insTGAAG ENSP00000514566.1:p.Ter64LeuextTer?
ENST00000699758.1:c.454_455insTGAAG ENSP00000514567.1:p.Ter152LeuextTer?
ENST00000699759.1:n.813_814insTGAAG
ENST00000699760.1:c.423_424insTGAAG ENSP00000514568.1:p.Ser142Ter
ENST00000699761.1:c.336_337insTGAAG ENSP00000514569.1:p.Ser113Ter
ENST00000699762.1:c.168_169insTGAAG ENSP00000514570.1:p.Ser57Ter
ENST00000699763.1:c.336_337insTGAAG ENSP00000514571.1:p.Ser113Ter
ENST00000699764.1:c.741_742insTGAAG ENSP00000514572.1:p.Ser248Ter
ENST00000699765.1:c.423_424insTGAAG ENSP00000514573.1:p.Ser142Ter
ENST00000699766.1:c.741_742insTGAAG ENSP00000514574.1:p.Ser248Ter
ENST00000699767.1:c.741_742insTGAAG ENSP00000514575.1:p.Ser248Ter
ENST00000699768.1:c.741_742insTGAAG ENSP00000514576.1:p.Ser248Ter
ENST00000699811.1:c.336_337insTGAAG ENSP00000514614.1:p.Ser113Ter
ENST00000699813.1:n.854_855insTGAAG
ENST00000699814.1:c.526+1720_526+1721insTGAAG
ENST00000699815.1:c.*242_*243insTGAAG ENSP00000514616.1:n.*242_*243insTGAAG
ENST00000699816.1:c.336_337insTGAAG ENSP00000514617.1:p.Ser113Ter
ENST00000699817.1:c.*335_*336insTGAAG ENSP00000514618.1:n.*335_*336insTGAAG
ENST00000699818.1:c.336_337insTGAAG ENSP00000514619.1:p.Ser113Ter
ENST00000699819.1:c.274_275insTGAAG ENSP00000514620.1:p.Ter92LeuextTer23
ENST00000699820.1:c.741_742insTGAAG ENSP00000514621.1:p.Ser248Ter
ENST00000699821.1:c.336_337insTGAAG ENSP00000514622.1:p.Ser113Ter
ENST00000699822.1:c.*193_*194insTGAAG ENSP00000514623.1:n.*193_*194insTGAAG
ENST00000699823.1:c.336_337insTGAAG ENSP00000514624.1:p.Ser113Ter
ENST00000699824.1:c.*244_*245insTGAAG ENSP00000514625.1:n.*244_*245insTGAAG
ENST00000699825.1:c.336_337insTGAAG ENSP00000514626.1:p.Ser113Ter
ENST00000699826.1:c.*140_*141insTGAAG ENSP00000514627.1:n.*140_*141insTGAAG
ENST00000699827.1:c.573_574insTGAAG ENSP00000514628.1:p.Ser192Ter
ENST00000699828.1:c.741_742insTGAAG ENSP00000514629.1:p.Ser248Ter
ENST00000699829.1:c.*242_*243insTGAAG ENSP00000514630.1:n.*242_*243insTGAAG
ENST00000699830.1:c.*140_*141insTGAAG ENSP00000514631.1:n.*140_*141insTGAAG
ENST00000699831.1:n.653_654insTGAAG
ENST00000699832.1:n.1024_1025insTGAAG
ENST00000699833.1:n.821_822insTGAAG
ENST00000699837.1:c.336_337insTGAAG ENSP00000514635.1:p.Ser113Ter
ENST00000699838.1:c.*641_*642insTGAAG ENSP00000514636.1:n.*641_*642insTGAAG
ENST00000699839.1:c.927_928insTGAAG ENSP00000514637.1:p.Ser310Ter
ENST00000699840.1:c.738_739insTGAAG ENSP00000514638.1:p.Ser247Ter
ENST00000699916.1:c.289_290insTGAAG ENSP00000514684.1:p.Ter97LeuextTer?
ENST00000699917.1:c.*190_*191insTGAAG ENSP00000514685.1:n.*190_*191insTGAAG
ENST00000699918.1:c.*242_*243insTGAAG ENSP00000514686.1:n.*242_*243insTGAAG
ENST00000699919.1:c.*328_*329insTGAAG ENSP00000514687.1:n.*328_*329insTGAAG
ENST00000699920.1:c.*377_*378insTGAAG ENSP00000514688.1:n.*377_*378insTGAAG
ENST00000699928.1:c.741_742insTGAAG ENSP00000514693.1:p.Ser248Ter
ENST00000699929.1:c.*104+1720_*104+1721insTGAAG ENSP00000514694.1:n.*104+1720_*104+1721insTGAAG
ENST00000699930.1:c.633_634insTGAAG ENSP00000514695.1:p.Ser212Ter
ENST00000699931.1:n.852_853insTGAAG
ENST00000699932.1:c.741_742insTGAAG ENSP00000514696.1:p.Ser248Ter
ENST00000699933.1:n.821_822insTGAAG
ENST00000699951.1:c.741_742insTGAAG ENSP00000514706.1:p.Ser248Ter
ENST00000699952.1:c.741_742insTGAAG ENSP00000514707.1:p.Ser248Ter
ENST00000699953.1:c.705+1720_705+1721insTGAAG ENSP00000514708.1:n.705+1720_705+1721insTGAAG
ENST00000699954.1:c.*104+1720_*104+1721insTGAAG ENSP00000514709.1:n.*104+1720_*104+1721insTGAAG
ENST00000265849.12:c.741_742insTGAAG MANE Select ENSP00000265849.7:p.Ser248Ter
ENST00000642292.1:c.336_337insTGAAG ENSP00000495524.1:p.Ser113Ter
ENST00000642456.1:c.336_337insTGAAG ENSP00000493814.1:p.Ser113Ter
ENST00000643595.1:c.*140_*141insTGAAG ENSP00000494497.1:n.*140_*141insTGAAG
ENST00000644110.1:c.423_424insTGAAG ENSP00000496392.1:p.Ser142Ter
ENST00000265849.11:c.741_742insTGAAG ENSP00000265849.7:p.Ser248Ter
ENST00000382321.5:c.741_742insTGAAG ENSP00000371758.4:p.Ser248Ter
ENST00000406569.7:n.741_742insTGAAG
ENST00000441476.6:c.423_424insTGAAG ENSP00000392843.2:p.Ser142Ter
ENST00000469652.1:n.62+8605_62+8606insTGAAG
NM_000535.5:c.741_742insTGAAG , LRG_161t1:c.741_742insTGAAG NP_000526.1:p.Ser248Ter
NR_003085.2:n.823_824insTGAAG
XM_006715742.2:c.735_736insTGAAG XP_006715805.1:p.Ser246Ter
XM_011515427.1:c.786_787insTGAAG XP_011513729.1:p.Ser263Ter
XM_011515428.1:c.786_787insTGAAG XP_011513730.1:p.Ser263Ter
XM_011515429.1:c.423_424insTGAAG XP_011513731.1:p.Ser142Ter
XM_011515430.1:c.423_424insTGAAG XP_011513732.1:p.Ser142Ter
NM_000535.6:c.741_742insTGAAG NP_000526.2:p.Ser248Ter
NM_001322003.1:c.336_337insTGAAG NP_001308932.1:p.Ser113Ter
NM_001322004.1:c.336_337insTGAAG NP_001308933.1:p.Ser113Ter
NM_001322005.1:c.336_337insTGAAG NP_001308934.1:p.Ser113Ter
NM_001322006.1:c.741_742insTGAAG NP_001308935.1:p.Ser248Ter
NM_001322007.1:c.423_424insTGAAG NP_001308936.1:p.Ser142Ter
NM_001322008.1:c.423_424insTGAAG NP_001308937.1:p.Ser142Ter
NM_001322009.1:c.336_337insTGAAG NP_001308938.1:p.Ser113Ter
NM_001322010.1:c.336_337insTGAAG NP_001308939.1:p.Ser113Ter
NM_001322011.1:c.-193_-192insTGAAG NP_001308940.1:n.-193_-192insTGAAG
NM_001322012.1:c.-193_-192insTGAAG NP_001308941.1:n.-193_-192insTGAAG
NM_001322013.1:c.168_169insTGAAG NP_001308942.1:p.Ser57Ter
NM_001322014.1:c.741_742insTGAAG NP_001308943.1:p.Ser248Ter
NM_001322015.1:c.432_433insTGAAG NP_001308944.1:p.Ser145Ter
NR_136154.1:n.828_829insTGAAG
XM_017012342.2:c.-93_-92insTGAAG XP_016867831.1:n.-93_-92insTGAAG
XM_024446800.1:c.336_337insTGAAG XP_024302568.1:p.Ser113Ter
NM_000535.7:c.741_742insTGAAG MANE Select NP_000526.2:p.Ser248Ter
NM_001322003.2:c.336_337insTGAAG NP_001308932.1:p.Ser113Ter
NM_001322004.2:c.336_337insTGAAG NP_001308933.1:p.Ser113Ter
NM_001322005.2:c.336_337insTGAAG NP_001308934.1:p.Ser113Ter
NM_001322006.2:c.741_742insTGAAG NP_001308935.1:p.Ser248Ter
NM_001322008.2:c.423_424insTGAAG NP_001308937.1:p.Ser142Ter
NM_001322009.2:c.336_337insTGAAG NP_001308938.1:p.Ser113Ter
NM_001322010.2:c.336_337insTGAAG NP_001308939.1:p.Ser113Ter
NM_001322011.2:c.-193_-192insTGAAG NP_001308940.1:n.-193_-192insTGAAG
NM_001322012.2:c.-193_-192insTGAAG NP_001308941.1:n.-193_-192insTGAAG
NM_001322013.2:c.168_169insTGAAG NP_001308942.1:p.Ser57Ter
NM_001322014.2:c.741_742insTGAAG NP_001308943.1:p.Ser248Ter
NM_001322015.2:c.432_433insTGAAG NP_001308944.1:p.Ser145Ter
NM_001322007.2:c.423_424insTGAAG NP_001308936.1:p.Ser142Ter