Canonical Allele Identifier: CA453642452

Gene: PMS2

Linked Data

• MyVariant Identifiers: chr7:g.6017348A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977717A>C , CM000669.2:g.5977717A>C	GRCh38
NC_000007.13:g.6017348A>C , CM000669.1:g.6017348A>C	GRCh37
NC_000007.12:g.5983874A>C	NCBI36
NG_008466.1:g.36390T>G , LRG_161:g.36390T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1712T>G	ENSP00000514615.2:n.*1712T>G
ENST00000699840.2:c.2313T>G	ENSP00000514638.2:p.Thr771=
ENST00000699930.2:c.2208T>G	ENSP00000514695.2:p.Thr736=
ENST00000406569.8:c.1679-3T>G	ENSP00000514464.1:n.1679-3T>G
ENST00000644110.2:c.*1910T>G	ENSP00000496392.2:n.*1910T>G
ENST00000699752.1:c.2160T>G	ENSP00000514561.1:p.Thr720=
ENST00000699753.1:c.*1737T>G	ENSP00000514562.1:n.*1737T>G
ENST00000699754.1:c.2118T>G	ENSP00000514563.1:p.Thr706=
ENST00000699755.1:c.*1715T>G	ENSP00000514564.1:n.*1715T>G
ENST00000699756.1:c.*1903T>G	ENSP00000514565.1:n.*1903T>G
ENST00000699757.1:c.*1573T>G	ENSP00000514566.1:n.*1573T>G
ENST00000699758.1:c.*1573T>G	ENSP00000514567.1:n.*1573T>G
ENST00000699759.1:n.3170T>G
ENST00000699760.1:c.1998T>G	ENSP00000514568.1:p.Thr666=
ENST00000699761.1:c.1911T>G	ENSP00000514569.1:p.Thr637=
ENST00000699762.1:c.1743T>G	ENSP00000514570.1:p.Thr581=
ENST00000699763.1:c.*1406T>G	ENSP00000514571.1:n.*1406T>G
ENST00000699764.1:c.*634T>G	ENSP00000514572.1:n.*634T>G
ENST00000699765.1:c.*1311T>G	ENSP00000514573.1:n.*1311T>G
ENST00000699766.1:c.2349T>G	ENSP00000514574.1:p.Thr783=
ENST00000699767.1:c.2276-3T>G	ENSP00000514575.1:n.2276-3T>G
ENST00000699768.1:c.2175-3T>G	ENSP00000514576.1:n.2175-3T>G
ENST00000699811.1:c.1911T>G	ENSP00000514614.1:p.Thr637=
ENST00000699813.1:n.2429T>G
ENST00000699814.1:c.1939T>G
ENST00000699815.1:c.*1847T>G	ENSP00000514616.1:n.*1847T>G
ENST00000699816.1:c.*1206T>G	ENSP00000514617.1:n.*1206T>G
ENST00000699817.1:c.*1910T>G	ENSP00000514618.1:n.*1910T>G
ENST00000699818.1:c.1911T>G	ENSP00000514619.1:p.Thr637=
ENST00000699819.1:c.*1473T>G	ENSP00000514620.1:n.*1473T>G
ENST00000699820.1:c.*254T>G	ENSP00000514621.1:n.*254T>G
ENST00000699821.1:c.1944T>G	ENSP00000514622.1:p.Thr648=
ENST00000699822.1:c.*1768T>G	ENSP00000514623.1:n.*1768T>G
ENST00000699823.1:c.1911T>G	ENSP00000514624.1:p.Thr637=
ENST00000699824.1:c.*1819T>G	ENSP00000514625.1:n.*1819T>G
ENST00000699825.1:c.1755T>G	ENSP00000514626.1:p.Thr585=
ENST00000699826.1:c.*1715T>G	ENSP00000514627.1:n.*1715T>G
ENST00000699827.1:c.2148T>G	ENSP00000514628.1:p.Thr716=
ENST00000699828.1:c.*1406T>G	ENSP00000514629.1:n.*1406T>G
ENST00000699833.1:n.4088T>G
ENST00000699837.1:c.1911T>G	ENSP00000514635.1:p.Thr637=
ENST00000699838.1:c.*2216T>G	ENSP00000514636.1:n.*2216T>G
ENST00000699839.1:c.2502T>G	ENSP00000514637.1:p.Thr834=
ENST00000699916.1:c.*1573T>G	ENSP00000514684.1:n.*1573T>G
ENST00000699917.1:c.*1765T>G	ENSP00000514685.1:n.*1765T>G
ENST00000699918.1:c.*1817T>G	ENSP00000514686.1:n.*1817T>G
ENST00000699919.1:c.*1903T>G	ENSP00000514687.1:n.*1903T>G
ENST00000699920.1:c.*1952T>G	ENSP00000514688.1:n.*1952T>G
ENST00000699928.1:c.*254T>G	ENSP00000514693.1:n.*254T>G
ENST00000699951.1:c.*1372-3T>G	ENSP00000514706.1:n.*1372-3T>G
ENST00000699952.1:c.804-4175T>G	ENSP00000514707.1:n.804-4175T>G
ENST00000265849.12:c.2316T>G MANE Select	ENSP00000265849.7:p.Thr772=
ENST00000642292.1:c.1911T>G	ENSP00000495524.1:p.Thr637=
ENST00000642456.1:c.1911T>G	ENSP00000493814.1:p.Thr637=
ENST00000643595.1:c.*1715T>G	ENSP00000494497.1:n.*1715T>G
ENST00000644110.1:c.1998T>G	ENSP00000496392.1:p.Thr666=
ENST00000265849.11:c.2316T>G	ENSP00000265849.7:p.Thr772=
ENST00000382321.5:c.1113T>G	ENSP00000371758.4:p.Thr371=
ENST00000406569.7:n.1679-3T>G
ENST00000441476.6:c.1998T>G	ENSP00000392843.2:p.Thr666=
NM_000535.5:c.2316T>G , LRG_161t1:c.2316T>G	NP_000526.1:p.Thr772=
NR_003085.2:n.2398T>G
XM_006715742.2:c.2310T>G	XP_006715805.1:p.Thr770=
XM_006715744.2:c.1383T>G	XP_006715807.1:p.Thr461=
XM_011515427.1:c.2361T>G	XP_011513729.1:p.Thr787=
XM_011515428.1:c.2205T>G	XP_011513730.1:p.Thr735=
XM_011515429.1:c.1998T>G	XP_011513731.1:p.Thr666=
XM_011515430.1:c.1998T>G	XP_011513732.1:p.Thr666=
NM_000535.6:c.2316T>G	NP_000526.2:p.Thr772=
NM_001322003.1:c.1911T>G	NP_001308932.1:p.Thr637=
NM_001322004.1:c.1911T>G	NP_001308933.1:p.Thr637=
NM_001322005.1:c.1911T>G	NP_001308934.1:p.Thr637=
NM_001322006.1:c.2160T>G	NP_001308935.1:p.Thr720=
NM_001322007.1:c.1998T>G	NP_001308936.1:p.Thr666=
NM_001322008.1:c.1998T>G	NP_001308937.1:p.Thr666=
NM_001322009.1:c.1944T>G	NP_001308938.1:p.Thr648=
NM_001322010.1:c.1755T>G	NP_001308939.1:p.Thr585=
NM_001322011.1:c.1383T>G	NP_001308940.1:p.Thr461=
NM_001322012.1:c.1383T>G	NP_001308941.1:p.Thr461=
NM_001322013.1:c.1743T>G	NP_001308942.1:p.Thr581=
NM_001322014.1:c.2349T>G	NP_001308943.1:p.Thr783=
NM_001322015.1:c.2007T>G	NP_001308944.1:p.Thr669=
NR_136154.1:n.2363-3T>G
XM_006715744.4:c.1383T>G	XP_006715807.1:p.Thr461=
XM_017012342.2:c.1383T>G	XP_016867831.1:p.Thr461=
XM_024446800.1:c.1755T>G	XP_024302568.1:p.Thr585=
NM_000535.7:c.2316T>G MANE Select	NP_000526.2:p.Thr772=
NM_001322003.2:c.1911T>G	NP_001308932.1:p.Thr637=
NM_001322004.2:c.1911T>G	NP_001308933.1:p.Thr637=
NM_001322005.2:c.1911T>G	NP_001308934.1:p.Thr637=
NM_001322006.2:c.2160T>G	NP_001308935.1:p.Thr720=
NM_001322008.2:c.1998T>G	NP_001308937.1:p.Thr666=
NM_001322009.2:c.1944T>G	NP_001308938.1:p.Thr648=
NM_001322010.2:c.1755T>G	NP_001308939.1:p.Thr585=
NM_001322011.2:c.1383T>G	NP_001308940.1:p.Thr461=
NM_001322012.2:c.1383T>G	NP_001308941.1:p.Thr461=
NM_001322013.2:c.1743T>G	NP_001308942.1:p.Thr581=
NM_001322014.2:c.2349T>G	NP_001308943.1:p.Thr783=
NM_001322015.2:c.2007T>G	NP_001308944.1:p.Thr669=
NM_001322007.2:c.1998T>G	NP_001308936.1:p.Thr666=