Canonical Allele Identifier: CA366739799

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986967T>C , CM000669.2:g.5986967T>C	GRCh38
NC_000007.13:g.6026598T>C , CM000669.1:g.6026598T>C	GRCh37
NC_000007.12:g.5993124T>C	NCBI36
NG_008466.1:g.27140A>G , LRG_161:g.27140A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000535.7:c.1798A>G MANE Select	NP_000526.2:p.Met600Val
ENST00000265849.12:c.1798A>G MANE Select	ENSP00000265849.7:p.Met600Val
NM_000535.5:c.1798A>G , LRG_161t1:c.1798A>G	NP_000526.1:p.Met600Val
NM_000535.6:c.1798A>G	NP_000526.2:p.Met600Val
NM_001322003.1:c.1393A>G	NP_001308932.1:p.Met465Val
NM_001322003.2:c.1393A>G	NP_001308932.1:p.Met465Val
NM_001322004.1:c.1393A>G	NP_001308933.1:p.Met465Val
NM_001322004.2:c.1393A>G	NP_001308933.1:p.Met465Val
NM_001322005.1:c.1393A>G	NP_001308934.1:p.Met465Val
NM_001322005.2:c.1393A>G	NP_001308934.1:p.Met465Val
NM_001322006.1:c.1642A>G	NP_001308935.1:p.Met548Val
NM_001322006.2:c.1642A>G	NP_001308935.1:p.Met548Val
NM_001322007.1:c.1480A>G	NP_001308936.1:p.Met494Val
NM_001322007.2:c.1480A>G	NP_001308936.1:p.Met494Val
NM_001322008.1:c.1480A>G	NP_001308937.1:p.Met494Val
NM_001322008.2:c.1480A>G	NP_001308937.1:p.Met494Val
NM_001322009.1:c.1393A>G	NP_001308938.1:p.Met465Val
NM_001322009.2:c.1393A>G	NP_001308938.1:p.Met465Val
NM_001322010.1:c.1237A>G	NP_001308939.1:p.Met413Val
NM_001322010.2:c.1237A>G	NP_001308939.1:p.Met413Val
NM_001322011.1:c.865A>G	NP_001308940.1:p.Met289Val
NM_001322011.2:c.865A>G	NP_001308940.1:p.Met289Val
NM_001322012.1:c.865A>G	NP_001308941.1:p.Met289Val
NM_001322012.2:c.865A>G	NP_001308941.1:p.Met289Val
NM_001322013.1:c.1225A>G	NP_001308942.1:p.Met409Val
NM_001322013.2:c.1225A>G	NP_001308942.1:p.Met409Val
NM_001322014.1:c.1798A>G	NP_001308943.1:p.Met600Val
NM_001322014.2:c.1798A>G	NP_001308943.1:p.Met600Val
NM_001322015.1:c.1489A>G	NP_001308944.1:p.Met497Val
NM_001322015.2:c.1489A>G	NP_001308944.1:p.Met497Val
NR_003085.2:n.1880A>G
NR_136154.1:n.1885A>G
ENST00000265849.11:c.1798A>G	ENSP00000265849.7:p.Met600Val
ENST00000382321.5:c.804-3976A>G	ENSP00000371758.4:n.804-3976A>G
ENST00000406569.7:n.1678+120A>G
ENST00000406569.8:c.1678+120A>G	ENSP00000514464.1:n.1678+120A>G
ENST00000441476.6:c.1480A>G	ENSP00000392843.2:p.Met494Val
ENST00000469652.1:n.63-4062A>G
ENST00000642292.1:c.1393A>G	ENSP00000495524.1:p.Met465Val
ENST00000642456.1:c.1393A>G	ENSP00000493814.1:p.Met465Val
ENST00000643595.1:c.*1197A>G	ENSP00000494497.1:n.*1197A>G
ENST00000644110.1:c.1480A>G	ENSP00000496392.1:p.Met494Val
ENST00000644110.2:c.*1392A>G	ENSP00000496392.2:n.*1392A>G
ENST00000699752.1:c.1642A>G	ENSP00000514561.1:p.Met548Val
ENST00000699753.1:c.*1219A>G	ENSP00000514562.1:n.*1219A>G
ENST00000699754.1:c.1600A>G	ENSP00000514563.1:p.Met534Val
ENST00000699755.1:c.*1197A>G	ENSP00000514564.1:n.*1197A>G
ENST00000699756.1:c.*1385A>G	ENSP00000514565.1:n.*1385A>G
ENST00000699757.1:c.*1055A>G	ENSP00000514566.1:n.*1055A>G
ENST00000699758.1:c.*1055A>G	ENSP00000514567.1:n.*1055A>G
ENST00000699759.1:n.2652A>G
ENST00000699760.1:c.1480A>G	ENSP00000514568.1:p.Met494Val
ENST00000699761.1:c.1393A>G	ENSP00000514569.1:p.Met465Val
ENST00000699762.1:c.1225A>G	ENSP00000514570.1:p.Met409Val
ENST00000699763.1:c.*888A>G	ENSP00000514571.1:n.*888A>G
ENST00000699764.1:c.*116A>G	ENSP00000514572.1:n.*116A>G
ENST00000699765.1:c.*894A>G	ENSP00000514573.1:n.*894A>G
ENST00000699766.1:c.1798A>G	ENSP00000514574.1:p.Met600Val
ENST00000699767.1:c.1798A>G	ENSP00000514575.1:p.Met600Val
ENST00000699768.1:c.1798A>G	ENSP00000514576.1:p.Met600Val
ENST00000699811.1:c.1393A>G	ENSP00000514614.1:p.Met465Val
ENST00000699813.1:n.1911A>G
ENST00000699814.1:c.1421A>G
ENST00000699814.2:c.*1194A>G	ENSP00000514615.2:n.*1194A>G
ENST00000699815.1:c.*1329A>G	ENSP00000514616.1:n.*1329A>G
ENST00000699816.1:c.*688A>G	ENSP00000514617.1:n.*688A>G
ENST00000699817.1:c.*1392A>G	ENSP00000514618.1:n.*1392A>G
ENST00000699818.1:c.1393A>G	ENSP00000514619.1:p.Met465Val
ENST00000699819.1:c.*955A>G	ENSP00000514620.1:n.*955A>G
ENST00000699820.1:c.1144+2833A>G	ENSP00000514621.1:n.1144+2833A>G
ENST00000699821.1:c.1393A>G	ENSP00000514622.1:p.Met465Val
ENST00000699822.1:c.*1250A>G	ENSP00000514623.1:n.*1250A>G
ENST00000699823.1:c.1393A>G	ENSP00000514624.1:p.Met465Val
ENST00000699824.1:c.*1301A>G	ENSP00000514625.1:n.*1301A>G
ENST00000699825.1:c.1237A>G	ENSP00000514626.1:p.Met413Val
ENST00000699826.1:c.*1197A>G	ENSP00000514627.1:n.*1197A>G
ENST00000699827.1:c.1630A>G	ENSP00000514628.1:p.Met544Val
ENST00000699828.1:c.*888A>G	ENSP00000514629.1:n.*888A>G
ENST00000699833.1:n.3570A>G
ENST00000699837.1:c.1393A>G	ENSP00000514635.1:p.Met465Val
ENST00000699838.1:c.*1698A>G	ENSP00000514636.1:n.*1698A>G
ENST00000699839.1:c.1984A>G	ENSP00000514637.1:p.Met662Val
ENST00000699840.2:c.1795A>G	ENSP00000514638.2:p.Met599Val
ENST00000699916.1:c.*1055A>G	ENSP00000514684.1:n.*1055A>G
ENST00000699917.1:c.*1247A>G	ENSP00000514685.1:n.*1247A>G
ENST00000699918.1:c.*1299A>G	ENSP00000514686.1:n.*1299A>G
ENST00000699919.1:c.*1385A>G	ENSP00000514687.1:n.*1385A>G
ENST00000699920.1:c.*1434A>G	ENSP00000514688.1:n.*1434A>G
ENST00000699928.1:c.989-3976A>G	ENSP00000514693.1:n.989-3976A>G
ENST00000699929.1:c.*1099A>G	ENSP00000514694.1:n.*1099A>G
ENST00000699930.1:c.1690A>G	ENSP00000514695.1:p.Met564Val
ENST00000699930.2:c.1690A>G	ENSP00000514695.2:p.Met564Val
ENST00000699931.1:n.3226A>G
ENST00000699951.1:c.*894A>G	ENSP00000514706.1:n.*894A>G
ENST00000699952.1:c.803+10359A>G	ENSP00000514707.1:n.803+10359A>G
ENST00000699953.1:c.*905A>G	ENSP00000514708.1:n.*905A>G
ENST00000699954.1:c.*1099A>G	ENSP00000514709.1:n.*1099A>G
XM_006715742.2:c.1792A>G	XP_006715805.1:p.Met598Val
XM_006715744.2:c.865A>G	XP_006715807.1:p.Met289Val
XM_006715744.4:c.865A>G	XP_006715807.1:p.Met289Val
XM_011515427.1:c.1843A>G	XP_011513729.1:p.Met615Val
XM_011515428.1:c.1687A>G	XP_011513730.1:p.Met563Val
XM_011515429.1:c.1480A>G	XP_011513731.1:p.Met494Val
XM_011515430.1:c.1480A>G	XP_011513732.1:p.Met494Val
XM_017012342.2:c.865A>G	XP_016867831.1:p.Met289Val
XM_024446800.1:c.1237A>G	XP_024302568.1:p.Met413Val