Canonical Allele Identifier: CA1685217771

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982954A= , CM000669.2:g.5982954A=	GRCh38
NC_000007.13:g.6022585A= , CM000669.1:g.6022585A=	GRCh37
NC_000007.12:g.5989111A=	NCBI36
NG_008466.1:g.31153T= , LRG_161:g.31153T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1440T=	ENSP00000514615.2:n.*1440T=
ENST00000699840.2:c.2041T=	ENSP00000514638.2:p.Phe681=
ENST00000699930.2:c.1936T=	ENSP00000514695.2:p.Phe646=
ENST00000406569.8:c.1678+4133T=	ENSP00000514464.1:n.1678+4133T=
ENST00000644110.2:c.*1638T=	ENSP00000496392.2:n.*1638T=
ENST00000699752.1:c.1888T=	ENSP00000514561.1:p.Phe630=
ENST00000699753.1:c.*1465T=	ENSP00000514562.1:n.*1465T=
ENST00000699754.1:c.1846T=	ENSP00000514563.1:p.Phe616=
ENST00000699755.1:c.*1443T=	ENSP00000514564.1:n.*1443T=
ENST00000699756.1:c.*1631T=	ENSP00000514565.1:n.*1631T=
ENST00000699757.1:c.*1301T=	ENSP00000514566.1:n.*1301T=
ENST00000699758.1:c.*1301T=	ENSP00000514567.1:n.*1301T=
ENST00000699759.1:n.2898T=
ENST00000699760.1:c.1726T=	ENSP00000514568.1:p.Phe576=
ENST00000699761.1:c.1639T=	ENSP00000514569.1:p.Phe547=
ENST00000699762.1:c.1471T=	ENSP00000514570.1:p.Phe491=
ENST00000699763.1:c.*1134T=	ENSP00000514571.1:n.*1134T=
ENST00000699764.1:c.*362T=	ENSP00000514572.1:n.*362T=
ENST00000699765.1:c.*1140T=	ENSP00000514573.1:n.*1140T=
ENST00000699766.1:c.2044T=	ENSP00000514574.1:p.Phe682=
ENST00000699767.1:c.2044T=	ENSP00000514575.1:p.Phe682=
ENST00000699768.1:c.2044T=	ENSP00000514576.1:p.Phe682=
ENST00000699811.1:c.1639T=	ENSP00000514614.1:p.Phe547=
ENST00000699813.1:n.2157T=
ENST00000699814.1:c.1667T=
ENST00000699815.1:c.*1575T=	ENSP00000514616.1:n.*1575T=
ENST00000699816.1:c.*934T=	ENSP00000514617.1:n.*934T=
ENST00000699817.1:c.*1638T=	ENSP00000514618.1:n.*1638T=
ENST00000699818.1:c.1639T=	ENSP00000514619.1:p.Phe547=
ENST00000699819.1:c.*1201T=	ENSP00000514620.1:n.*1201T=
ENST00000699820.1:c.1182T=	ENSP00000514621.1:p.Ser394=
ENST00000699821.1:c.1639T=	ENSP00000514622.1:p.Phe547=
ENST00000699822.1:c.*1496T=	ENSP00000514623.1:n.*1496T=
ENST00000699823.1:c.1639T=	ENSP00000514624.1:p.Phe547=
ENST00000699824.1:c.*1547T=	ENSP00000514625.1:n.*1547T=
ENST00000699825.1:c.1483T=	ENSP00000514626.1:p.Phe495=
ENST00000699826.1:c.*1443T=	ENSP00000514627.1:n.*1443T=
ENST00000699827.1:c.1876T=	ENSP00000514628.1:p.Phe626=
ENST00000699828.1:c.*1134T=	ENSP00000514629.1:n.*1134T=
ENST00000699833.1:n.3816T=
ENST00000699837.1:c.1639T=	ENSP00000514635.1:p.Phe547=
ENST00000699838.1:c.*1944T=	ENSP00000514636.1:n.*1944T=
ENST00000699839.1:c.2230T=	ENSP00000514637.1:p.Phe744=
ENST00000699916.1:c.*1301T=	ENSP00000514684.1:n.*1301T=
ENST00000699917.1:c.*1493T=	ENSP00000514685.1:n.*1493T=
ENST00000699918.1:c.*1545T=	ENSP00000514686.1:n.*1545T=
ENST00000699919.1:c.*1631T=	ENSP00000514687.1:n.*1631T=
ENST00000699920.1:c.*1680T=	ENSP00000514688.1:n.*1680T=
ENST00000699928.1:c.1026T=	ENSP00000514693.1:p.Ser342=
ENST00000699951.1:c.*1140T=	ENSP00000514706.1:n.*1140T=
ENST00000699952.1:c.804-9412T=	ENSP00000514707.1:n.804-9412T=
ENST00000265849.12:c.2044T= MANE Select	ENSP00000265849.7:p.Phe682=
ENST00000642292.1:c.1639T=	ENSP00000495524.1:p.Phe547=
ENST00000642456.1:c.1639T=	ENSP00000493814.1:p.Phe547=
ENST00000643595.1:c.*1443T=	ENSP00000494497.1:n.*1443T=
ENST00000644110.1:c.1726T=	ENSP00000496392.1:p.Phe576=
ENST00000265849.11:c.2044T=	ENSP00000265849.7:p.Phe682=
ENST00000382321.5:c.841T=	ENSP00000371758.4:p.Phe281=
ENST00000406569.7:n.1678+4133T=
ENST00000441476.6:c.1726T=	ENSP00000392843.2:p.Phe576=
ENST00000469652.1:n.63-49T=
NM_000535.5:c.2044T= , LRG_161t1:c.2044T=	NP_000526.1:p.Phe682=
NR_003085.2:n.2126T=
XM_006715742.2:c.2038T=	XP_006715805.1:p.Phe680=
XM_006715744.2:c.1111T=	XP_006715807.1:p.Phe371=
XM_011515427.1:c.2089T=	XP_011513729.1:p.Phe697=
XM_011515428.1:c.1933T=	XP_011513730.1:p.Phe645=
XM_011515429.1:c.1726T=	XP_011513731.1:p.Phe576=
XM_011515430.1:c.1726T=	XP_011513732.1:p.Phe576=
NM_000535.6:c.2044T=	NP_000526.2:p.Phe682=
NM_001322003.1:c.1639T=	NP_001308932.1:p.Phe547=
NM_001322004.1:c.1639T=	NP_001308933.1:p.Phe547=
NM_001322005.1:c.1639T=	NP_001308934.1:p.Phe547=
NM_001322006.1:c.1888T=	NP_001308935.1:p.Phe630=
NM_001322007.1:c.1726T=	NP_001308936.1:p.Phe576=
NM_001322008.1:c.1726T=	NP_001308937.1:p.Phe576=
NM_001322009.1:c.1639T=	NP_001308938.1:p.Phe547=
NM_001322010.1:c.1483T=	NP_001308939.1:p.Phe495=
NM_001322011.1:c.1111T=	NP_001308940.1:p.Phe371=
NM_001322012.1:c.1111T=	NP_001308941.1:p.Phe371=
NM_001322013.1:c.1471T=	NP_001308942.1:p.Phe491=
NM_001322014.1:c.2044T=	NP_001308943.1:p.Phe682=
NM_001322015.1:c.1735T=	NP_001308944.1:p.Phe579=
NR_136154.1:n.2131T=
XM_006715744.4:c.1111T=	XP_006715807.1:p.Phe371=
XM_017012342.2:c.1111T=	XP_016867831.1:p.Phe371=
XM_024446800.1:c.1483T=	XP_024302568.1:p.Phe495=
NM_000535.7:c.2044T= MANE Select	NP_000526.2:p.Phe682=
NM_001322003.2:c.1639T=	NP_001308932.1:p.Phe547=
NM_001322004.2:c.1639T=	NP_001308933.1:p.Phe547=
NM_001322005.2:c.1639T=	NP_001308934.1:p.Phe547=
NM_001322006.2:c.1888T=	NP_001308935.1:p.Phe630=
NM_001322008.2:c.1726T=	NP_001308937.1:p.Phe576=
NM_001322009.2:c.1639T=	NP_001308938.1:p.Phe547=
NM_001322010.2:c.1483T=	NP_001308939.1:p.Phe495=
NM_001322011.2:c.1111T=	NP_001308940.1:p.Phe371=
NM_001322012.2:c.1111T=	NP_001308941.1:p.Phe371=
NM_001322013.2:c.1471T=	NP_001308942.1:p.Phe491=
NM_001322014.2:c.2044T=	NP_001308943.1:p.Phe682=
NM_001322015.2:c.1735T=	NP_001308944.1:p.Phe579=
NM_001322007.2:c.1726T=	NP_001308936.1:p.Phe576=