Canonical Allele Identifier: CA2695207434

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982851dup , CM000669.2:g.5982851dup	GRCh38
NC_000007.13:g.6022482dup , CM000669.1:g.6022482dup	GRCh37
NC_000007.12:g.5989008dup	NCBI36
NG_008466.1:g.31257dup , LRG_161:g.31257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1544dup	ENSP00000514615.2:n.*1544dup
ENST00000699840.2:c.2145dup	ENSP00000514638.2:p.Val716ArgfsTer19
ENST00000699930.2:c.2040dup	ENSP00000514695.2:p.Val681ArgfsTer19
ENST00000406569.8:c.1678+4237dup	ENSP00000514464.1:n.1678+4237dup
ENST00000644110.2:c.*1742dup	ENSP00000496392.2:n.*1742dup
ENST00000699752.1:c.1992dup	ENSP00000514561.1:p.Val665ArgfsTer19
ENST00000699753.1:c.*1569dup	ENSP00000514562.1:n.*1569dup
ENST00000699754.1:c.1950dup	ENSP00000514563.1:p.Val651ArgfsTer19
ENST00000699755.1:c.*1547dup	ENSP00000514564.1:n.*1547dup
ENST00000699756.1:c.*1735dup	ENSP00000514565.1:n.*1735dup
ENST00000699757.1:c.*1405dup	ENSP00000514566.1:n.*1405dup
ENST00000699758.1:c.*1405dup	ENSP00000514567.1:n.*1405dup
ENST00000699759.1:n.3002dup
ENST00000699760.1:c.1830dup	ENSP00000514568.1:p.Val611ArgfsTer19
ENST00000699761.1:c.1743dup	ENSP00000514569.1:p.Val582ArgfsTer19
ENST00000699762.1:c.1575dup	ENSP00000514570.1:p.Val526ArgfsTer19
ENST00000699763.1:c.*1238dup	ENSP00000514571.1:n.*1238dup
ENST00000699764.1:c.*466dup	ENSP00000514572.1:n.*466dup
ENST00000699765.1:c.*1244dup	ENSP00000514573.1:n.*1244dup
ENST00000699766.1:c.2148dup	ENSP00000514574.1:p.Val717ArgfsTer19
ENST00000699767.1:c.2148dup	ENSP00000514575.1:p.Val717ArgfsTer19
ENST00000699768.1:c.2148dup	ENSP00000514576.1:p.Val717ArgfsTer10
ENST00000699811.1:c.1743dup	ENSP00000514614.1:p.Val582ArgfsTer19
ENST00000699813.1:n.2261dup
ENST00000699814.1:c.1771dup
ENST00000699815.1:c.*1679dup	ENSP00000514616.1:n.*1679dup
ENST00000699816.1:c.*1038dup	ENSP00000514617.1:n.*1038dup
ENST00000699817.1:c.*1742dup	ENSP00000514618.1:n.*1742dup
ENST00000699818.1:c.1743dup	ENSP00000514619.1:p.Val582ArgfsTer19
ENST00000699819.1:c.*1305dup	ENSP00000514620.1:n.*1305dup
ENST00000699820.1:c.*86dup	ENSP00000514621.1:n.*86dup
ENST00000699821.1:c.1743dup	ENSP00000514622.1:p.Val582ArgfsTer19
ENST00000699822.1:c.*1600dup	ENSP00000514623.1:n.*1600dup
ENST00000699823.1:c.1743dup	ENSP00000514624.1:p.Val582ArgfsTer19
ENST00000699824.1:c.*1651dup	ENSP00000514625.1:n.*1651dup
ENST00000699825.1:c.1587dup	ENSP00000514626.1:p.Val530ArgfsTer19
ENST00000699826.1:c.*1547dup	ENSP00000514627.1:n.*1547dup
ENST00000699827.1:c.1980dup	ENSP00000514628.1:p.Val661ArgfsTer19
ENST00000699828.1:c.*1238dup	ENSP00000514629.1:n.*1238dup
ENST00000699833.1:n.3920dup
ENST00000699837.1:c.1743dup	ENSP00000514635.1:p.Val582ArgfsTer19
ENST00000699838.1:c.*2048dup	ENSP00000514636.1:n.*2048dup
ENST00000699839.1:c.2334dup	ENSP00000514637.1:p.Val779ArgfsTer19
ENST00000699916.1:c.*1405dup	ENSP00000514684.1:n.*1405dup
ENST00000699917.1:c.*1597dup	ENSP00000514685.1:n.*1597dup
ENST00000699918.1:c.*1649dup	ENSP00000514686.1:n.*1649dup
ENST00000699919.1:c.*1735dup	ENSP00000514687.1:n.*1735dup
ENST00000699920.1:c.*1784dup	ENSP00000514688.1:n.*1784dup
ENST00000699928.1:c.*86dup	ENSP00000514693.1:n.*86dup
ENST00000699951.1:c.*1244dup	ENSP00000514706.1:n.*1244dup
ENST00000699952.1:c.804-9308dup	ENSP00000514707.1:n.804-9308dup
ENST00000265849.12:c.2148dup MANE Select	ENSP00000265849.7:p.Val717ArgfsTer19
ENST00000642292.1:c.1743dup	ENSP00000495524.1:p.Val582ArgfsTer19
ENST00000642456.1:c.1743dup	ENSP00000493814.1:p.Val582ArgfsTer19
ENST00000643595.1:c.*1547dup	ENSP00000494497.1:n.*1547dup
ENST00000644110.1:c.1830dup	ENSP00000496392.1:p.Val611ArgfsTer19
ENST00000265849.11:c.2148dup	ENSP00000265849.7:p.Val717ArgfsTer19
ENST00000382321.5:c.945dup	ENSP00000371758.4:p.Val316ArgfsTer19
ENST00000406569.7:n.1678+4237dup
ENST00000441476.6:c.1830dup	ENSP00000392843.2:p.Val611ArgfsTer19
NM_000535.5:c.2148dup , LRG_161t1:c.2148dup	NP_000526.1:p.Val717ArgfsTer19
NR_003085.2:n.2230dup
XM_006715742.2:c.2142dup	XP_006715805.1:p.Val715ArgfsTer19
XM_006715744.2:c.1215dup	XP_006715807.1:p.Val406ArgfsTer19
XM_011515427.1:c.2193dup	XP_011513729.1:p.Val732ArgfsTer19
XM_011515428.1:c.2037dup	XP_011513730.1:p.Val680ArgfsTer19
XM_011515429.1:c.1830dup	XP_011513731.1:p.Val611ArgfsTer19
XM_011515430.1:c.1830dup	XP_011513732.1:p.Val611ArgfsTer19
NM_000535.6:c.2148dup	NP_000526.2:p.Val717ArgfsTer19
NM_001322003.1:c.1743dup	NP_001308932.1:p.Val582ArgfsTer19
NM_001322004.1:c.1743dup	NP_001308933.1:p.Val582ArgfsTer19
NM_001322005.1:c.1743dup	NP_001308934.1:p.Val582ArgfsTer19
NM_001322006.1:c.1992dup	NP_001308935.1:p.Val665ArgfsTer19
NM_001322007.1:c.1830dup	NP_001308936.1:p.Val611ArgfsTer19
NM_001322008.1:c.1830dup	NP_001308937.1:p.Val611ArgfsTer19
NM_001322009.1:c.1743dup	NP_001308938.1:p.Val582ArgfsTer19
NM_001322010.1:c.1587dup	NP_001308939.1:p.Val530ArgfsTer19
NM_001322011.1:c.1215dup	NP_001308940.1:p.Val406ArgfsTer19
NM_001322012.1:c.1215dup	NP_001308941.1:p.Val406ArgfsTer19
NM_001322013.1:c.1575dup	NP_001308942.1:p.Val526ArgfsTer19
NM_001322014.1:c.2148dup	NP_001308943.1:p.Val717ArgfsTer19
NM_001322015.1:c.1839dup	NP_001308944.1:p.Val614ArgfsTer19
NR_136154.1:n.2235dup
XM_006715744.4:c.1215dup	XP_006715807.1:p.Val406ArgfsTer19
XM_017012342.2:c.1215dup	XP_016867831.1:p.Val406ArgfsTer19
XM_024446800.1:c.1587dup	XP_024302568.1:p.Val530ArgfsTer19
NM_000535.7:c.2148dup MANE Select	NP_000526.2:p.Val717ArgfsTer19
NM_001322003.2:c.1743dup	NP_001308932.1:p.Val582ArgfsTer19
NM_001322004.2:c.1743dup	NP_001308933.1:p.Val582ArgfsTer19
NM_001322005.2:c.1743dup	NP_001308934.1:p.Val582ArgfsTer19
NM_001322006.2:c.1992dup	NP_001308935.1:p.Val665ArgfsTer19
NM_001322008.2:c.1830dup	NP_001308937.1:p.Val611ArgfsTer19
NM_001322009.2:c.1743dup	NP_001308938.1:p.Val582ArgfsTer19
NM_001322010.2:c.1587dup	NP_001308939.1:p.Val530ArgfsTer19
NM_001322011.2:c.1215dup	NP_001308940.1:p.Val406ArgfsTer19
NM_001322012.2:c.1215dup	NP_001308941.1:p.Val406ArgfsTer19
NM_001322013.2:c.1575dup	NP_001308942.1:p.Val526ArgfsTer19
NM_001322014.2:c.2148dup	NP_001308943.1:p.Val717ArgfsTer19
NM_001322015.2:c.1839dup	NP_001308944.1:p.Val614ArgfsTer19
NM_001322007.2:c.1830dup	NP_001308936.1:p.Val611ArgfsTer19