Canonical Allele Identifier: CA1685217609
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982918C= , CM000669.2:g.5982918C= GRCh38
NC_000007.13:g.6022549C= , CM000669.1:g.6022549C= GRCh37
NC_000007.12:g.5989075C= NCBI36
NG_008466.1:g.31189G= , LRG_161:g.31189G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1476G= ENSP00000514615.2:n.*1476G=
ENST00000699840.2:c.2077G= ENSP00000514638.2:p.Asp693=
ENST00000699930.2:c.1972G= ENSP00000514695.2:p.Asp658=
ENST00000406569.8:c.1678+4169G= ENSP00000514464.1:n.1678+4169G=
ENST00000644110.2:c.*1674G= ENSP00000496392.2:n.*1674G=
ENST00000699752.1:c.1924G= ENSP00000514561.1:p.Asp642=
ENST00000699753.1:c.*1501G= ENSP00000514562.1:n.*1501G=
ENST00000699754.1:c.1882G= ENSP00000514563.1:p.Asp628=
ENST00000699755.1:c.*1479G= ENSP00000514564.1:n.*1479G=
ENST00000699756.1:c.*1667G= ENSP00000514565.1:n.*1667G=
ENST00000699757.1:c.*1337G= ENSP00000514566.1:n.*1337G=
ENST00000699758.1:c.*1337G= ENSP00000514567.1:n.*1337G=
ENST00000699759.1:n.2934G=
ENST00000699760.1:c.1762G= ENSP00000514568.1:p.Asp588=
ENST00000699761.1:c.1675G= ENSP00000514569.1:p.Asp559=
ENST00000699762.1:c.1507G= ENSP00000514570.1:p.Asp503=
ENST00000699763.1:c.*1170G= ENSP00000514571.1:n.*1170G=
ENST00000699764.1:c.*398G= ENSP00000514572.1:n.*398G=
ENST00000699765.1:c.*1176G= ENSP00000514573.1:n.*1176G=
ENST00000699766.1:c.2080G= ENSP00000514574.1:p.Asp694=
ENST00000699767.1:c.2080G= ENSP00000514575.1:p.Asp694=
ENST00000699768.1:c.2080G= ENSP00000514576.1:p.Asp694=
ENST00000699811.1:c.1675G= ENSP00000514614.1:p.Asp559=
ENST00000699813.1:n.2193G=
ENST00000699814.1:c.1703G=
ENST00000699815.1:c.*1611G= ENSP00000514616.1:n.*1611G=
ENST00000699816.1:c.*970G= ENSP00000514617.1:n.*970G=
ENST00000699817.1:c.*1674G= ENSP00000514618.1:n.*1674G=
ENST00000699818.1:c.1675G= ENSP00000514619.1:p.Asp559=
ENST00000699819.1:c.*1237G= ENSP00000514620.1:n.*1237G=
ENST00000699820.1:c.*18G= ENSP00000514621.1:n.*18G=
ENST00000699821.1:c.1675G= ENSP00000514622.1:p.Asp559=
ENST00000699822.1:c.*1532G= ENSP00000514623.1:n.*1532G=
ENST00000699823.1:c.1675G= ENSP00000514624.1:p.Asp559=
ENST00000699824.1:c.*1583G= ENSP00000514625.1:n.*1583G=
ENST00000699825.1:c.1519G= ENSP00000514626.1:p.Asp507=
ENST00000699826.1:c.*1479G= ENSP00000514627.1:n.*1479G=
ENST00000699827.1:c.1912G= ENSP00000514628.1:p.Asp638=
ENST00000699828.1:c.*1170G= ENSP00000514629.1:n.*1170G=
ENST00000699833.1:n.3852G=
ENST00000699837.1:c.1675G= ENSP00000514635.1:p.Asp559=
ENST00000699838.1:c.*1980G= ENSP00000514636.1:n.*1980G=
ENST00000699839.1:c.2266G= ENSP00000514637.1:p.Asp756=
ENST00000699916.1:c.*1337G= ENSP00000514684.1:n.*1337G=
ENST00000699917.1:c.*1529G= ENSP00000514685.1:n.*1529G=
ENST00000699918.1:c.*1581G= ENSP00000514686.1:n.*1581G=
ENST00000699919.1:c.*1667G= ENSP00000514687.1:n.*1667G=
ENST00000699920.1:c.*1716G= ENSP00000514688.1:n.*1716G=
ENST00000699928.1:c.*18G= ENSP00000514693.1:n.*18G=
ENST00000699951.1:c.*1176G= ENSP00000514706.1:n.*1176G=
ENST00000699952.1:c.804-9376G= ENSP00000514707.1:n.804-9376G=
ENST00000265849.12:c.2080G= MANE Select ENSP00000265849.7:p.Asp694=
ENST00000642292.1:c.1675G= ENSP00000495524.1:p.Asp559=
ENST00000642456.1:c.1675G= ENSP00000493814.1:p.Asp559=
ENST00000643595.1:c.*1479G= ENSP00000494497.1:n.*1479G=
ENST00000644110.1:c.1762G= ENSP00000496392.1:p.Asp588=
ENST00000265849.11:c.2080G= ENSP00000265849.7:p.Asp694=
ENST00000382321.5:c.877G= ENSP00000371758.4:p.Asp293=
ENST00000406569.7:n.1678+4169G=
ENST00000441476.6:c.1762G= ENSP00000392843.2:p.Asp588=
ENST00000469652.1:n.63-13G=
NM_000535.5:c.2080G= , LRG_161t1:c.2080G= NP_000526.1:p.Asp694=
NR_003085.2:n.2162G=
XM_006715742.2:c.2074G= XP_006715805.1:p.Asp692=
XM_006715744.2:c.1147G= XP_006715807.1:p.Asp383=
XM_011515427.1:c.2125G= XP_011513729.1:p.Asp709=
XM_011515428.1:c.1969G= XP_011513730.1:p.Asp657=
XM_011515429.1:c.1762G= XP_011513731.1:p.Asp588=
XM_011515430.1:c.1762G= XP_011513732.1:p.Asp588=
NM_000535.6:c.2080G= NP_000526.2:p.Asp694=
NM_001322003.1:c.1675G= NP_001308932.1:p.Asp559=
NM_001322004.1:c.1675G= NP_001308933.1:p.Asp559=
NM_001322005.1:c.1675G= NP_001308934.1:p.Asp559=
NM_001322006.1:c.1924G= NP_001308935.1:p.Asp642=
NM_001322007.1:c.1762G= NP_001308936.1:p.Asp588=
NM_001322008.1:c.1762G= NP_001308937.1:p.Asp588=
NM_001322009.1:c.1675G= NP_001308938.1:p.Asp559=
NM_001322010.1:c.1519G= NP_001308939.1:p.Asp507=
NM_001322011.1:c.1147G= NP_001308940.1:p.Asp383=
NM_001322012.1:c.1147G= NP_001308941.1:p.Asp383=
NM_001322013.1:c.1507G= NP_001308942.1:p.Asp503=
NM_001322014.1:c.2080G= NP_001308943.1:p.Asp694=
NM_001322015.1:c.1771G= NP_001308944.1:p.Asp591=
NR_136154.1:n.2167G=
XM_006715744.4:c.1147G= XP_006715807.1:p.Asp383=
XM_017012342.2:c.1147G= XP_016867831.1:p.Asp383=
XM_024446800.1:c.1519G= XP_024302568.1:p.Asp507=
NM_000535.7:c.2080G= MANE Select NP_000526.2:p.Asp694=
NM_001322003.2:c.1675G= NP_001308932.1:p.Asp559=
NM_001322004.2:c.1675G= NP_001308933.1:p.Asp559=
NM_001322005.2:c.1675G= NP_001308934.1:p.Asp559=
NM_001322006.2:c.1924G= NP_001308935.1:p.Asp642=
NM_001322008.2:c.1762G= NP_001308937.1:p.Asp588=
NM_001322009.2:c.1675G= NP_001308938.1:p.Asp559=
NM_001322010.2:c.1519G= NP_001308939.1:p.Asp507=
NM_001322011.2:c.1147G= NP_001308940.1:p.Asp383=
NM_001322012.2:c.1147G= NP_001308941.1:p.Asp383=
NM_001322013.2:c.1507G= NP_001308942.1:p.Asp503=
NM_001322014.2:c.2080G= NP_001308943.1:p.Asp694=
NM_001322015.2:c.1771G= NP_001308944.1:p.Asp591=
NM_001322007.2:c.1762G= NP_001308936.1:p.Asp588=