Canonical Allele Identifier: CA2838032686

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6006030_6006037del , CM000669.2:g.6006030_6006037del	GRCh38
NC_000007.13:g.6045661_6045668del , CM000669.1:g.6045661_6045668del	GRCh37
NC_000007.12:g.6012187_6012194del	NCBI36
NG_008466.1:g.8071_8078del , LRG_161:g.8071_8078del
NG_050738.1:g.1780_1787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.24-5_26del
ENST00000699840.2:c.24-5_26del
ENST00000699930.2:c.24-5_26del
ENST00000406569.8:c.24-5_26del
ENST00000415839.3:n.89-5_91del
ENST00000644110.2:c.24-5_26del
ENST00000699752.1:c.24-5_26del
ENST00000699753.1:c.-377-10_-377-3del	ENSP00000514562.1:n.-377-10_-377-3del
ENST00000699754.1:c.24-5_26del
ENST00000699755.1:c.-377-10_-377-3del	ENSP00000514564.1:n.-377-10_-377-3del
ENST00000699756.1:c.24-5_26del
ENST00000699757.1:c.-187-10_-187-3del	ENSP00000514566.1:n.-187-10_-187-3del
ENST00000699758.1:c.24-5_26del
ENST00000699759.1:n.96-5_98del
ENST00000699760.1:c.-52-1978_-52-1971del	ENSP00000514568.1:n.-52-1978_-52-1971del
ENST00000699761.1:c.-324-10_-324-3del	ENSP00000514569.1:n.-324-10_-324-3del
ENST00000699762.1:c.-377-10_-377-3del	ENSP00000514570.1:n.-377-10_-377-3del
ENST00000699763.1:c.-377-10_-377-3del	ENSP00000514571.1:n.-377-10_-377-3del
ENST00000699764.1:c.24-5_26del
ENST00000699765.1:c.-187-10_-187-3del	ENSP00000514573.1:n.-187-10_-187-3del
ENST00000699766.1:c.24-5_26del
ENST00000699767.1:c.24-5_26del
ENST00000699768.1:c.24-5_26del
ENST00000699769.1:n.104-5_106del
ENST00000699770.1:n.80-5_82del
ENST00000699811.1:c.-552-10_-552-3del	ENSP00000514614.1:n.-552-10_-552-3del
ENST00000699815.1:c.-377-10_-377-3del	ENSP00000514616.1:n.-377-10_-377-3del
ENST00000699816.1:c.-382-5_-380del
ENST00000699817.1:c.24-5_26del
ENST00000699818.1:c.-382-5_-380del
ENST00000699819.1:c.-395-5_-393del
ENST00000699820.1:c.24-5_26del
ENST00000699821.1:c.-377-10_-377-3del	ENSP00000514622.1:n.-377-10_-377-3del
ENST00000699822.1:c.-377-10_-377-3del	ENSP00000514623.1:n.-377-10_-377-3del
ENST00000699823.1:c.-189-1978_-189-1971del	ENSP00000514624.1:n.-189-1978_-189-1971del
ENST00000699824.1:c.24-5_26del
ENST00000699825.1:c.-377-10_-377-3del	ENSP00000514626.1:n.-377-10_-377-3del
ENST00000699826.1:c.-242-1978_-242-1971del	ENSP00000514627.1:n.-242-1978_-242-1971del
ENST00000699827.1:c.24-5_26del
ENST00000699828.1:c.24-5_26del
ENST00000699829.1:c.-324-10_-324-3del	ENSP00000514630.1:n.-324-10_-324-3del
ENST00000699830.1:c.24-5_26del
ENST00000699833.1:n.104-5_106del
ENST00000699834.1:n.235-10_235-3del
ENST00000699837.1:c.-274-10_-274-3del	ENSP00000514635.1:n.-274-10_-274-3del
ENST00000699838.1:c.191-5_193del
ENST00000699839.1:c.210-5_212del
ENST00000699840.1:c.24-5_26del
ENST00000699916.1:c.-377-10_-377-3del	ENSP00000514684.1:n.-377-10_-377-3del
ENST00000699917.1:c.24-5_26del
ENST00000699918.1:c.24-5_26del
ENST00000699919.1:c.24-5_26del
ENST00000699920.1:c.24-5_26del
ENST00000699928.1:c.24-5_26del
ENST00000699929.1:c.24-5_26del
ENST00000699930.1:c.24-5_26del
ENST00000699931.1:n.135-5_137del
ENST00000699932.1:c.24-5_26del
ENST00000699933.1:n.104-5_106del
ENST00000699951.1:c.24-5_26del
ENST00000699952.1:c.24-5_26del
ENST00000699953.1:c.24-5_26del
ENST00000699954.1:c.24-5_26del
ENST00000703409.1:n.223-5_225del
ENST00000265849.12:c.24-5_26del
ENST00000642292.1:c.-242-1978_-242-1971del	ENSP00000495524.1:n.-242-1978_-242-1971del
ENST00000642456.1:c.-377-10_-377-3del	ENSP00000493814.1:n.-377-10_-377-3del
ENST00000643595.1:c.24-5_26del
ENST00000265849.11:c.24-5_26del
ENST00000380416.5:n.103-5_105del
ENST00000382321.5:c.24-5_26del
ENST00000406569.7:n.24-5_26del
ENST00000415839.2:n.31_38del
ENST00000441476.6:c.-192-5_-190del
ENST00000469652.1:n.24-5_26del
NM_000535.5:c.24-5_26del , LRG_161t1:c.24-5_26del
NR_003085.2:n.111-10_111-3del
XM_006715742.2:c.18-5_20del
XM_011515427.1:c.69-5_71del
XM_011515428.1:c.69-5_71del
XM_011515429.1:c.-192-5_-190del
XM_011515430.1:c.-187-10_-187-3del	XP_011513732.1:n.-187-10_-187-3del
NM_000535.6:c.24-5_26del
NM_001322003.1:c.-377-10_-377-3del	NP_001308932.1:n.-377-10_-377-3del
NM_001322004.1:c.-242-1978_-242-1971del	NP_001308933.1:n.-242-1978_-242-1971del
NM_001322005.1:c.-382-5_-380del
NM_001322006.1:c.24-5_26del
NM_001322007.1:c.-192-5_-190del
NM_001322008.1:c.-52-1978_-52-1971del	NP_001308937.1:n.-52-1978_-52-1971del
NM_001322009.1:c.-377-10_-377-3del	NP_001308938.1:n.-377-10_-377-3del
NM_001322010.1:c.-242-1978_-242-1971del	NP_001308939.1:n.-242-1978_-242-1971del
NM_001322011.1:c.-861-5_-859del
NM_001322012.1:c.-856-10_-856-3del	NP_001308941.1:n.-856-10_-856-3del
NM_001322013.1:c.-377-10_-377-3del	NP_001308942.1:n.-377-10_-377-3del
NM_001322014.1:c.24-5_26del
NM_001322015.1:c.-456-10_-456-3del	NP_001308944.1:n.-456-10_-456-3del
NR_136154.1:n.111-5_113del
XM_017012342.2:c.-756-10_-756-3del	XP_016867831.1:n.-756-10_-756-3del
XM_024446800.1:c.-377-10_-377-3del	XP_024302568.1:n.-377-10_-377-3del
NM_000535.7:c.24-5_26del
NM_001322003.2:c.-377-10_-377-3del	NP_001308932.1:n.-377-10_-377-3del
NM_001322004.2:c.-242-1978_-242-1971del	NP_001308933.1:n.-242-1978_-242-1971del
NM_001322005.2:c.-382-5_-380del
NM_001322006.2:c.24-5_26del
NM_001322008.2:c.-52-1978_-52-1971del	NP_001308937.1:n.-52-1978_-52-1971del
NM_001322009.2:c.-377-10_-377-3del	NP_001308938.1:n.-377-10_-377-3del
NM_001322010.2:c.-242-1978_-242-1971del	NP_001308939.1:n.-242-1978_-242-1971del
NM_001322011.2:c.-861-5_-859del
NM_001322012.2:c.-856-10_-856-3del	NP_001308941.1:n.-856-10_-856-3del
NM_001322013.2:c.-377-10_-377-3del	NP_001308942.1:n.-377-10_-377-3del
NM_001322014.2:c.24-5_26del
NM_001322015.2:c.-456-10_-456-3del	NP_001308944.1:n.-456-10_-456-3del
NM_001322007.2:c.-192-5_-190del