Canonical Allele Identifier: CA1685264333
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6006375_6006376delinsGC , CM000669.2:g.6006375_6006376delinsGC GRCh38
NC_000007.13:g.6046006_6046007delinsGC , CM000669.1:g.6046006_6046007delinsGC GRCh37
NC_000007.12:g.6012532_6012533delinsGC NCBI36
NG_008466.1:g.7731_7732delinsGC , LRG_161:g.7731_7732delinsGC
NG_050738.1:g.2125_2126delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.24-345_24-344delinsGC ENSP00000514615.2:n.24-345_24-344delinsGC
ENST00000699840.2:c.24-345_24-344delinsGC ENSP00000514638.2:n.24-345_24-344delinsGC
ENST00000699930.2:c.24-345_24-344delinsGC ENSP00000514695.2:n.24-345_24-344delinsGC
ENST00000406569.8:c.24-345_24-344delinsGC ENSP00000514464.1:n.24-345_24-344delinsGC
ENST00000415839.3:n.89-345_89-344delinsGC
ENST00000644110.2:c.24-345_24-344delinsGC ENSP00000496392.2:n.24-345_24-344delinsGC
ENST00000699752.1:c.24-345_24-344delinsGC ENSP00000514561.1:n.24-345_24-344delinsGC
ENST00000699753.1:c.-377-350_-377-349delinsGC ENSP00000514562.1:n.-377-350_-377-349delinsGC
ENST00000699754.1:c.24-345_24-344delinsGC ENSP00000514563.1:n.24-345_24-344delinsGC
ENST00000699755.1:c.-377-350_-377-349delinsGC ENSP00000514564.1:n.-377-350_-377-349delinsGC
ENST00000699756.1:c.24-345_24-344delinsGC ENSP00000514565.1:n.24-345_24-344delinsGC
ENST00000699757.1:c.-187-350_-187-349delinsGC ENSP00000514566.1:n.-187-350_-187-349delinsGC
ENST00000699758.1:c.24-345_24-344delinsGC ENSP00000514567.1:n.24-345_24-344delinsGC
ENST00000699759.1:n.96-345_96-344delinsGC
ENST00000699760.1:c.-52-2318_-52-2317delinsGC ENSP00000514568.1:n.-52-2318_-52-2317delinsGC
ENST00000699761.1:c.-324-350_-324-349delinsGC ENSP00000514569.1:n.-324-350_-324-349delinsGC
ENST00000699762.1:c.-377-350_-377-349delinsGC ENSP00000514570.1:n.-377-350_-377-349delinsGC
ENST00000699763.1:c.-377-350_-377-349delinsGC ENSP00000514571.1:n.-377-350_-377-349delinsGC
ENST00000699764.1:c.24-345_24-344delinsGC ENSP00000514572.1:n.24-345_24-344delinsGC
ENST00000699765.1:c.-187-350_-187-349delinsGC ENSP00000514573.1:n.-187-350_-187-349delinsGC
ENST00000699766.1:c.24-345_24-344delinsGC ENSP00000514574.1:n.24-345_24-344delinsGC
ENST00000699767.1:c.24-345_24-344delinsGC ENSP00000514575.1:n.24-345_24-344delinsGC
ENST00000699768.1:c.24-345_24-344delinsGC ENSP00000514576.1:n.24-345_24-344delinsGC
ENST00000699769.1:n.104-345_104-344delinsGC
ENST00000699770.1:n.80-345_80-344delinsGC
ENST00000699811.1:c.-552-350_-552-349delinsGC ENSP00000514614.1:n.-552-350_-552-349delinsGC
ENST00000699815.1:c.-377-350_-377-349delinsGC ENSP00000514616.1:n.-377-350_-377-349delinsGC
ENST00000699816.1:c.-438_-437delinsGC ENSP00000514617.1:n.-438_-437delinsGC
ENST00000699817.1:c.24-345_24-344delinsGC ENSP00000514618.1:n.24-345_24-344delinsGC
ENST00000699818.1:c.-382-345_-382-344delinsGC ENSP00000514619.1:n.-382-345_-382-344delinsGC
ENST00000699819.1:c.-395-345_-395-344delinsGC ENSP00000514620.1:n.-395-345_-395-344delinsGC
ENST00000699820.1:c.24-345_24-344delinsGC ENSP00000514621.1:n.24-345_24-344delinsGC
ENST00000699821.1:c.-377-350_-377-349delinsGC ENSP00000514622.1:n.-377-350_-377-349delinsGC
ENST00000699822.1:c.-377-350_-377-349delinsGC ENSP00000514623.1:n.-377-350_-377-349delinsGC
ENST00000699823.1:c.-189-2318_-189-2317delinsGC ENSP00000514624.1:n.-189-2318_-189-2317delinsGC
ENST00000699824.1:c.24-345_24-344delinsGC ENSP00000514625.1:n.24-345_24-344delinsGC
ENST00000699825.1:c.-377-350_-377-349delinsGC ENSP00000514626.1:n.-377-350_-377-349delinsGC
ENST00000699826.1:c.-242-2318_-242-2317delinsGC ENSP00000514627.1:n.-242-2318_-242-2317delinsGC
ENST00000699827.1:c.24-345_24-344delinsGC ENSP00000514628.1:n.24-345_24-344delinsGC
ENST00000699828.1:c.24-345_24-344delinsGC ENSP00000514629.1:n.24-345_24-344delinsGC
ENST00000699829.1:c.-324-350_-324-349delinsGC ENSP00000514630.1:n.-324-350_-324-349delinsGC
ENST00000699830.1:c.24-345_24-344delinsGC ENSP00000514631.1:n.24-345_24-344delinsGC
ENST00000699833.1:n.104-345_104-344delinsGC
ENST00000699834.1:n.235-350_235-349delinsGC
ENST00000699837.1:c.-274-350_-274-349delinsGC ENSP00000514635.1:n.-274-350_-274-349delinsGC
ENST00000699838.1:c.135_136delinsGC ENSP00000514636.1:p.Gln45=
ENST00000699839.1:c.135_136delinsGC ENSP00000514637.1:p.Gln45=
ENST00000699840.1:c.24-345_24-344delinsGC ENSP00000514638.1:n.24-345_24-344delinsGC
ENST00000699916.1:c.-377-350_-377-349delinsGC ENSP00000514684.1:n.-377-350_-377-349delinsGC
ENST00000699917.1:c.24-345_24-344delinsGC ENSP00000514685.1:n.24-345_24-344delinsGC
ENST00000699918.1:c.24-345_24-344delinsGC ENSP00000514686.1:n.24-345_24-344delinsGC
ENST00000699919.1:c.24-345_24-344delinsGC ENSP00000514687.1:n.24-345_24-344delinsGC
ENST00000699920.1:c.24-345_24-344delinsGC ENSP00000514688.1:n.24-345_24-344delinsGC
ENST00000699928.1:c.24-345_24-344delinsGC ENSP00000514693.1:n.24-345_24-344delinsGC
ENST00000699929.1:c.24-345_24-344delinsGC ENSP00000514694.1:n.24-345_24-344delinsGC
ENST00000699930.1:c.24-345_24-344delinsGC ENSP00000514695.1:n.24-345_24-344delinsGC
ENST00000699931.1:n.135-345_135-344delinsGC
ENST00000699932.1:c.24-345_24-344delinsGC ENSP00000514696.1:n.24-345_24-344delinsGC
ENST00000699933.1:n.104-345_104-344delinsGC
ENST00000699951.1:c.24-345_24-344delinsGC ENSP00000514706.1:n.24-345_24-344delinsGC
ENST00000699952.1:c.24-345_24-344delinsGC ENSP00000514707.1:n.24-345_24-344delinsGC
ENST00000699953.1:c.24-345_24-344delinsGC ENSP00000514708.1:n.24-345_24-344delinsGC
ENST00000699954.1:c.24-345_24-344delinsGC ENSP00000514709.1:n.24-345_24-344delinsGC
ENST00000703409.1:n.223-345_223-344delinsGC
ENST00000265849.12:c.24-345_24-344delinsGC MANE Select ENSP00000265849.7:n.24-345_24-344delinsGC
ENST00000642292.1:c.-242-2318_-242-2317delinsGC ENSP00000495524.1:n.-242-2318_-242-2317delinsGC
ENST00000642456.1:c.-377-350_-377-349delinsGC ENSP00000493814.1:n.-377-350_-377-349delinsGC
ENST00000643595.1:c.24-345_24-344delinsGC ENSP00000494497.1:n.24-345_24-344delinsGC
ENST00000265849.11:c.24-345_24-344delinsGC ENSP00000265849.7:n.24-345_24-344delinsGC
ENST00000380416.5:n.103-345_103-344delinsGC
ENST00000382321.5:c.24-345_24-344delinsGC ENSP00000371758.4:n.24-345_24-344delinsGC
ENST00000406569.7:n.24-345_24-344delinsGC
ENST00000441476.6:c.-192-345_-192-344delinsGC ENSP00000392843.2:n.-192-345_-192-344delinsGC
ENST00000469652.1:n.24-345_24-344delinsGC
NM_000535.5:c.24-345_24-344delinsGC , LRG_161t1:c.24-345_24-344delinsGC NP_000526.1:n.24-345_24-344delinsGC
NR_003085.2:n.111-350_111-349delinsGC
XM_006715742.2:c.18-345_18-344delinsGC XP_006715805.1:n.18-345_18-344delinsGC
XM_011515427.1:c.-7_-6delinsGC XP_011513729.1:n.-7_-6delinsGC
XM_011515428.1:c.-7_-6delinsGC XP_011513730.1:n.-7_-6delinsGC
XM_011515429.1:c.-192-345_-192-344delinsGC XP_011513731.1:n.-192-345_-192-344delinsGC
XM_011515430.1:c.-187-350_-187-349delinsGC XP_011513732.1:n.-187-350_-187-349delinsGC
NM_000535.6:c.24-345_24-344delinsGC NP_000526.2:n.24-345_24-344delinsGC
NM_001322003.1:c.-377-350_-377-349delinsGC NP_001308932.1:n.-377-350_-377-349delinsGC
NM_001322004.1:c.-242-2318_-242-2317delinsGC NP_001308933.1:n.-242-2318_-242-2317delinsGC
NM_001322005.1:c.-382-345_-382-344delinsGC NP_001308934.1:n.-382-345_-382-344delinsGC
NM_001322006.1:c.24-345_24-344delinsGC NP_001308935.1:n.24-345_24-344delinsGC
NM_001322007.1:c.-192-345_-192-344delinsGC NP_001308936.1:n.-192-345_-192-344delinsGC
NM_001322008.1:c.-52-2318_-52-2317delinsGC NP_001308937.1:n.-52-2318_-52-2317delinsGC
NM_001322009.1:c.-377-350_-377-349delinsGC NP_001308938.1:n.-377-350_-377-349delinsGC
NM_001322010.1:c.-242-2318_-242-2317delinsGC NP_001308939.1:n.-242-2318_-242-2317delinsGC
NM_001322011.1:c.-861-345_-861-344delinsGC NP_001308940.1:n.-861-345_-861-344delinsGC
NM_001322012.1:c.-856-350_-856-349delinsGC NP_001308941.1:n.-856-350_-856-349delinsGC
NM_001322013.1:c.-377-350_-377-349delinsGC NP_001308942.1:n.-377-350_-377-349delinsGC
NM_001322014.1:c.24-345_24-344delinsGC NP_001308943.1:n.24-345_24-344delinsGC
NM_001322015.1:c.-456-350_-456-349delinsGC NP_001308944.1:n.-456-350_-456-349delinsGC
NR_136154.1:n.111-345_111-344delinsGC
XM_017012342.2:c.-756-350_-756-349delinsGC XP_016867831.1:n.-756-350_-756-349delinsGC
XM_024446800.1:c.-377-350_-377-349delinsGC XP_024302568.1:n.-377-350_-377-349delinsGC
NM_000535.7:c.24-345_24-344delinsGC MANE Select NP_000526.2:n.24-345_24-344delinsGC
NM_001322003.2:c.-377-350_-377-349delinsGC NP_001308932.1:n.-377-350_-377-349delinsGC
NM_001322004.2:c.-242-2318_-242-2317delinsGC NP_001308933.1:n.-242-2318_-242-2317delinsGC
NM_001322005.2:c.-382-345_-382-344delinsGC NP_001308934.1:n.-382-345_-382-344delinsGC
NM_001322006.2:c.24-345_24-344delinsGC NP_001308935.1:n.24-345_24-344delinsGC
NM_001322008.2:c.-52-2318_-52-2317delinsGC NP_001308937.1:n.-52-2318_-52-2317delinsGC
NM_001322009.2:c.-377-350_-377-349delinsGC NP_001308938.1:n.-377-350_-377-349delinsGC
NM_001322010.2:c.-242-2318_-242-2317delinsGC NP_001308939.1:n.-242-2318_-242-2317delinsGC
NM_001322011.2:c.-861-345_-861-344delinsGC NP_001308940.1:n.-861-345_-861-344delinsGC
NM_001322012.2:c.-856-350_-856-349delinsGC NP_001308941.1:n.-856-350_-856-349delinsGC
NM_001322013.2:c.-377-350_-377-349delinsGC NP_001308942.1:n.-377-350_-377-349delinsGC
NM_001322014.2:c.24-345_24-344delinsGC NP_001308943.1:n.24-345_24-344delinsGC
NM_001322015.2:c.-456-350_-456-349delinsGC NP_001308944.1:n.-456-350_-456-349delinsGC
NM_001322007.2:c.-192-345_-192-344delinsGC NP_001308936.1:n.-192-345_-192-344delinsGC