Canonical Allele Identifier: CA1685227517
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987044G= , CM000669.2:g.5987044G= GRCh38
NC_000007.13:g.6026675G= , CM000669.1:g.6026675G= GRCh37
NC_000007.12:g.5993201G= NCBI36
NG_008466.1:g.27063C= , LRG_161:g.27063C=

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1117C= ENSP00000514615.2:n.*1117C=
ENST00000699840.2:c.1718C= ENSP00000514638.2:p.Pro573=
ENST00000699930.2:c.1613C= ENSP00000514695.2:p.Pro538=
ENST00000406569.8:c.1678+43C= ENSP00000514464.1:n.1678+43C=
ENST00000644110.2:c.*1315C= ENSP00000496392.2:n.*1315C=
ENST00000699752.1:c.1565C= ENSP00000514561.1:p.Pro522=
ENST00000699753.1:c.*1142C= ENSP00000514562.1:n.*1142C=
ENST00000699754.1:c.1523C= ENSP00000514563.1:p.Pro508=
ENST00000699755.1:c.*1120C= ENSP00000514564.1:n.*1120C=
ENST00000699756.1:c.*1308C= ENSP00000514565.1:n.*1308C=
ENST00000699757.1:c.*978C= ENSP00000514566.1:n.*978C=
ENST00000699758.1:c.*978C= ENSP00000514567.1:n.*978C=
ENST00000699759.1:n.2575C=
ENST00000699760.1:c.1403C= ENSP00000514568.1:p.Pro468=
ENST00000699761.1:c.1316C= ENSP00000514569.1:p.Pro439=
ENST00000699762.1:c.1148C= ENSP00000514570.1:p.Pro383=
ENST00000699763.1:c.*811C= ENSP00000514571.1:n.*811C=
ENST00000699764.1:c.*39C= ENSP00000514572.1:n.*39C=
ENST00000699765.1:c.*817C= ENSP00000514573.1:n.*817C=
ENST00000699766.1:c.1721C= ENSP00000514574.1:p.Pro574=
ENST00000699767.1:c.1721C= ENSP00000514575.1:p.Pro574=
ENST00000699768.1:c.1721C= ENSP00000514576.1:p.Pro574=
ENST00000699811.1:c.1316C= ENSP00000514614.1:p.Pro439=
ENST00000699813.1:n.1834C=
ENST00000699814.1:c.1344C=
ENST00000699815.1:c.*1252C= ENSP00000514616.1:n.*1252C=
ENST00000699816.1:c.*611C= ENSP00000514617.1:n.*611C=
ENST00000699817.1:c.*1315C= ENSP00000514618.1:n.*1315C=
ENST00000699818.1:c.1316C= ENSP00000514619.1:p.Pro439=
ENST00000699819.1:c.*878C= ENSP00000514620.1:n.*878C=
ENST00000699820.1:c.1144+2756C= ENSP00000514621.1:n.1144+2756C=
ENST00000699821.1:c.1316C= ENSP00000514622.1:p.Pro439=
ENST00000699822.1:c.*1173C= ENSP00000514623.1:n.*1173C=
ENST00000699823.1:c.1316C= ENSP00000514624.1:p.Pro439=
ENST00000699824.1:c.*1224C= ENSP00000514625.1:n.*1224C=
ENST00000699825.1:c.1160C= ENSP00000514626.1:p.Pro387=
ENST00000699826.1:c.*1120C= ENSP00000514627.1:n.*1120C=
ENST00000699827.1:c.1553C= ENSP00000514628.1:p.Pro518=
ENST00000699828.1:c.*811C= ENSP00000514629.1:n.*811C=
ENST00000699833.1:n.3493C=
ENST00000699837.1:c.1316C= ENSP00000514635.1:p.Pro439=
ENST00000699838.1:c.*1621C= ENSP00000514636.1:n.*1621C=
ENST00000699839.1:c.1907C= ENSP00000514637.1:p.Pro636=
ENST00000699916.1:c.*978C= ENSP00000514684.1:n.*978C=
ENST00000699917.1:c.*1170C= ENSP00000514685.1:n.*1170C=
ENST00000699918.1:c.*1222C= ENSP00000514686.1:n.*1222C=
ENST00000699919.1:c.*1308C= ENSP00000514687.1:n.*1308C=
ENST00000699920.1:c.*1357C= ENSP00000514688.1:n.*1357C=
ENST00000699928.1:c.989-4053C= ENSP00000514693.1:n.989-4053C=
ENST00000699929.1:c.*1022C= ENSP00000514694.1:n.*1022C=
ENST00000699930.1:c.1613C= ENSP00000514695.1:p.Pro538=
ENST00000699931.1:n.3149C=
ENST00000699951.1:c.*817C= ENSP00000514706.1:n.*817C=
ENST00000699952.1:c.803+10282C= ENSP00000514707.1:n.803+10282C=
ENST00000699953.1:c.*828C= ENSP00000514708.1:n.*828C=
ENST00000699954.1:c.*1022C= ENSP00000514709.1:n.*1022C=
ENST00000265849.12:c.1721C= MANE Select ENSP00000265849.7:p.Pro574=
ENST00000642292.1:c.1316C= ENSP00000495524.1:p.Pro439=
ENST00000642456.1:c.1316C= ENSP00000493814.1:p.Pro439=
ENST00000643595.1:c.*1120C= ENSP00000494497.1:n.*1120C=
ENST00000644110.1:c.1403C= ENSP00000496392.1:p.Pro468=
ENST00000265849.11:c.1721C= ENSP00000265849.7:p.Pro574=
ENST00000382321.5:c.804-4053C= ENSP00000371758.4:n.804-4053C=
ENST00000406569.7:n.1678+43C=
ENST00000441476.6:c.1403C= ENSP00000392843.2:p.Pro468=
ENST00000469652.1:n.63-4139C=
NM_000535.5:c.1721C= , LRG_161t1:c.1721C= NP_000526.1:p.Pro574=
NR_003085.2:n.1803C=
XM_006715742.2:c.1715C= XP_006715805.1:p.Pro572=
XM_006715744.2:c.788C= XP_006715807.1:p.Pro263=
XM_011515427.1:c.1766C= XP_011513729.1:p.Pro589=
XM_011515428.1:c.1610C= XP_011513730.1:p.Pro537=
XM_011515429.1:c.1403C= XP_011513731.1:p.Pro468=
XM_011515430.1:c.1403C= XP_011513732.1:p.Pro468=
NM_000535.6:c.1721C= NP_000526.2:p.Pro574=
NM_001322003.1:c.1316C= NP_001308932.1:p.Pro439=
NM_001322004.1:c.1316C= NP_001308933.1:p.Pro439=
NM_001322005.1:c.1316C= NP_001308934.1:p.Pro439=
NM_001322006.1:c.1565C= NP_001308935.1:p.Pro522=
NM_001322007.1:c.1403C= NP_001308936.1:p.Pro468=
NM_001322008.1:c.1403C= NP_001308937.1:p.Pro468=
NM_001322009.1:c.1316C= NP_001308938.1:p.Pro439=
NM_001322010.1:c.1160C= NP_001308939.1:p.Pro387=
NM_001322011.1:c.788C= NP_001308940.1:p.Pro263=
NM_001322012.1:c.788C= NP_001308941.1:p.Pro263=
NM_001322013.1:c.1148C= NP_001308942.1:p.Pro383=
NM_001322014.1:c.1721C= NP_001308943.1:p.Pro574=
NM_001322015.1:c.1412C= NP_001308944.1:p.Pro471=
NR_136154.1:n.1808C=
XM_006715744.4:c.788C= XP_006715807.1:p.Pro263=
XM_017012342.2:c.788C= XP_016867831.1:p.Pro263=
XM_024446800.1:c.1160C= XP_024302568.1:p.Pro387=
NM_000535.7:c.1721C= MANE Select NP_000526.2:p.Pro574=
NM_001322003.2:c.1316C= NP_001308932.1:p.Pro439=
NM_001322004.2:c.1316C= NP_001308933.1:p.Pro439=
NM_001322005.2:c.1316C= NP_001308934.1:p.Pro439=
NM_001322006.2:c.1565C= NP_001308935.1:p.Pro522=
NM_001322008.2:c.1403C= NP_001308937.1:p.Pro468=
NM_001322009.2:c.1316C= NP_001308938.1:p.Pro439=
NM_001322010.2:c.1160C= NP_001308939.1:p.Pro387=
NM_001322011.2:c.788C= NP_001308940.1:p.Pro263=
NM_001322012.2:c.788C= NP_001308941.1:p.Pro263=
NM_001322013.2:c.1148C= NP_001308942.1:p.Pro383=
NM_001322014.2:c.1721C= NP_001308943.1:p.Pro574=
NM_001322015.2:c.1412C= NP_001308944.1:p.Pro471=
NM_001322007.2:c.1403C= NP_001308936.1:p.Pro468=