Canonical Allele Identifier: CA366739588

Gene: PMS2

Linked Data

• dbSNP Id: rs1782959405
• MyVariant Identifiers: chr7:g.6026544G>T (hg19) ; chr7:g.5986913G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986913G>T , CM000669.2:g.5986913G>T	GRCh38
NC_000007.13:g.6026544G>T , CM000669.1:g.6026544G>T	GRCh37
NC_000007.12:g.5993070G>T	NCBI36
NG_008466.1:g.27194C>A , LRG_161:g.27194C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1248C>A	ENSP00000514615.2:n.*1248C>A
ENST00000699840.2:c.1849C>A	ENSP00000514638.2:p.Leu617Met
ENST00000699930.2:c.1744C>A	ENSP00000514695.2:p.Leu582Met
ENST00000406569.8:c.1678+174C>A	ENSP00000514464.1:n.1678+174C>A
ENST00000644110.2:c.*1446C>A	ENSP00000496392.2:n.*1446C>A
ENST00000699752.1:c.1696C>A	ENSP00000514561.1:p.Leu566Met
ENST00000699753.1:c.*1273C>A	ENSP00000514562.1:n.*1273C>A
ENST00000699754.1:c.1654C>A	ENSP00000514563.1:p.Leu552Met
ENST00000699755.1:c.*1251C>A	ENSP00000514564.1:n.*1251C>A
ENST00000699756.1:c.*1439C>A	ENSP00000514565.1:n.*1439C>A
ENST00000699757.1:c.*1109C>A	ENSP00000514566.1:n.*1109C>A
ENST00000699758.1:c.*1109C>A	ENSP00000514567.1:n.*1109C>A
ENST00000699759.1:n.2706C>A
ENST00000699760.1:c.1534C>A	ENSP00000514568.1:p.Leu512Met
ENST00000699761.1:c.1447C>A	ENSP00000514569.1:p.Leu483Met
ENST00000699762.1:c.1279C>A	ENSP00000514570.1:p.Leu427Met
ENST00000699763.1:c.*942C>A	ENSP00000514571.1:n.*942C>A
ENST00000699764.1:c.*170C>A	ENSP00000514572.1:n.*170C>A
ENST00000699765.1:c.*948C>A	ENSP00000514573.1:n.*948C>A
ENST00000699766.1:c.1852C>A	ENSP00000514574.1:p.Leu618Met
ENST00000699767.1:c.1852C>A	ENSP00000514575.1:p.Leu618Met
ENST00000699768.1:c.1852C>A	ENSP00000514576.1:p.Leu618Met
ENST00000699811.1:c.1447C>A	ENSP00000514614.1:p.Leu483Met
ENST00000699813.1:n.1965C>A
ENST00000699814.1:c.1475C>A
ENST00000699815.1:c.*1383C>A	ENSP00000514616.1:n.*1383C>A
ENST00000699816.1:c.*742C>A	ENSP00000514617.1:n.*742C>A
ENST00000699817.1:c.*1446C>A	ENSP00000514618.1:n.*1446C>A
ENST00000699818.1:c.1447C>A	ENSP00000514619.1:p.Leu483Met
ENST00000699819.1:c.*1009C>A	ENSP00000514620.1:n.*1009C>A
ENST00000699820.1:c.1144+2887C>A	ENSP00000514621.1:n.1144+2887C>A
ENST00000699821.1:c.1447C>A	ENSP00000514622.1:p.Leu483Met
ENST00000699822.1:c.*1304C>A	ENSP00000514623.1:n.*1304C>A
ENST00000699823.1:c.1447C>A	ENSP00000514624.1:p.Leu483Met
ENST00000699824.1:c.*1355C>A	ENSP00000514625.1:n.*1355C>A
ENST00000699825.1:c.1291C>A	ENSP00000514626.1:p.Leu431Met
ENST00000699826.1:c.*1251C>A	ENSP00000514627.1:n.*1251C>A
ENST00000699827.1:c.1684C>A	ENSP00000514628.1:p.Leu562Met
ENST00000699828.1:c.*942C>A	ENSP00000514629.1:n.*942C>A
ENST00000699833.1:n.3624C>A
ENST00000699837.1:c.1447C>A	ENSP00000514635.1:p.Leu483Met
ENST00000699838.1:c.*1752C>A	ENSP00000514636.1:n.*1752C>A
ENST00000699839.1:c.2038C>A	ENSP00000514637.1:p.Leu680Met
ENST00000699916.1:c.*1109C>A	ENSP00000514684.1:n.*1109C>A
ENST00000699917.1:c.*1301C>A	ENSP00000514685.1:n.*1301C>A
ENST00000699918.1:c.*1353C>A	ENSP00000514686.1:n.*1353C>A
ENST00000699919.1:c.*1439C>A	ENSP00000514687.1:n.*1439C>A
ENST00000699920.1:c.*1488C>A	ENSP00000514688.1:n.*1488C>A
ENST00000699928.1:c.989-3922C>A	ENSP00000514693.1:n.989-3922C>A
ENST00000699951.1:c.*948C>A	ENSP00000514706.1:n.*948C>A
ENST00000699952.1:c.803+10413C>A	ENSP00000514707.1:n.803+10413C>A
ENST00000265849.12:c.1852C>A MANE Select	ENSP00000265849.7:p.Leu618Met
ENST00000642292.1:c.1447C>A	ENSP00000495524.1:p.Leu483Met
ENST00000642456.1:c.1447C>A	ENSP00000493814.1:p.Leu483Met
ENST00000643595.1:c.*1251C>A	ENSP00000494497.1:n.*1251C>A
ENST00000644110.1:c.1534C>A	ENSP00000496392.1:p.Leu512Met
ENST00000265849.11:c.1852C>A	ENSP00000265849.7:p.Leu618Met
ENST00000382321.5:c.804-3922C>A	ENSP00000371758.4:n.804-3922C>A
ENST00000406569.7:n.1678+174C>A
ENST00000441476.6:c.1534C>A	ENSP00000392843.2:p.Leu512Met
ENST00000469652.1:n.63-4008C>A
NM_000535.5:c.1852C>A , LRG_161t1:c.1852C>A	NP_000526.1:p.Leu618Met
NR_003085.2:n.1934C>A
XM_006715742.2:c.1846C>A	XP_006715805.1:p.Leu616Met
XM_006715744.2:c.919C>A	XP_006715807.1:p.Leu307Met
XM_011515427.1:c.1897C>A	XP_011513729.1:p.Leu633Met
XM_011515428.1:c.1741C>A	XP_011513730.1:p.Leu581Met
XM_011515429.1:c.1534C>A	XP_011513731.1:p.Leu512Met
XM_011515430.1:c.1534C>A	XP_011513732.1:p.Leu512Met
NM_000535.6:c.1852C>A	NP_000526.2:p.Leu618Met
NM_001322003.1:c.1447C>A	NP_001308932.1:p.Leu483Met
NM_001322004.1:c.1447C>A	NP_001308933.1:p.Leu483Met
NM_001322005.1:c.1447C>A	NP_001308934.1:p.Leu483Met
NM_001322006.1:c.1696C>A	NP_001308935.1:p.Leu566Met
NM_001322007.1:c.1534C>A	NP_001308936.1:p.Leu512Met
NM_001322008.1:c.1534C>A	NP_001308937.1:p.Leu512Met
NM_001322009.1:c.1447C>A	NP_001308938.1:p.Leu483Met
NM_001322010.1:c.1291C>A	NP_001308939.1:p.Leu431Met
NM_001322011.1:c.919C>A	NP_001308940.1:p.Leu307Met
NM_001322012.1:c.919C>A	NP_001308941.1:p.Leu307Met
NM_001322013.1:c.1279C>A	NP_001308942.1:p.Leu427Met
NM_001322014.1:c.1852C>A	NP_001308943.1:p.Leu618Met
NM_001322015.1:c.1543C>A	NP_001308944.1:p.Leu515Met
NR_136154.1:n.1939C>A
XM_006715744.4:c.919C>A	XP_006715807.1:p.Leu307Met
XM_017012342.2:c.919C>A	XP_016867831.1:p.Leu307Met
XM_024446800.1:c.1291C>A	XP_024302568.1:p.Leu431Met
NM_000535.7:c.1852C>A MANE Select	NP_000526.2:p.Leu618Met
NM_001322003.2:c.1447C>A	NP_001308932.1:p.Leu483Met
NM_001322004.2:c.1447C>A	NP_001308933.1:p.Leu483Met
NM_001322005.2:c.1447C>A	NP_001308934.1:p.Leu483Met
NM_001322006.2:c.1696C>A	NP_001308935.1:p.Leu566Met
NM_001322008.2:c.1534C>A	NP_001308937.1:p.Leu512Met
NM_001322009.2:c.1447C>A	NP_001308938.1:p.Leu483Met
NM_001322010.2:c.1291C>A	NP_001308939.1:p.Leu431Met
NM_001322011.2:c.919C>A	NP_001308940.1:p.Leu307Met
NM_001322012.2:c.919C>A	NP_001308941.1:p.Leu307Met
NM_001322013.2:c.1279C>A	NP_001308942.1:p.Leu427Met
NM_001322014.2:c.1852C>A	NP_001308943.1:p.Leu618Met
NM_001322015.2:c.1543C>A	NP_001308944.1:p.Leu515Met
NM_001322007.2:c.1534C>A	NP_001308936.1:p.Leu512Met