Canonical Allele Identifier: CA1685246099

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973435_5973438delinsTCTC , CM000669.2:g.5973435_5973438delinsTCTC	GRCh38
NC_000007.13:g.6013066_6013069delinsTCTC , CM000669.1:g.6013066_6013069delinsTCTC	GRCh37
NC_000007.12:g.5979592_5979595delinsTCTC	NCBI36
NG_008466.1:g.40669_40672delinsGAGA , LRG_161:g.40669_40672delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1946_*1949delinsGAGA	ENSP00000514615.2:n.*1946_*1949delinsGAGA
ENST00000699840.2:c.2547_2550delinsGAGA	ENSP00000514638.2:p.Met849=
ENST00000699930.2:c.2442_2445delinsGAGA	ENSP00000514695.2:p.Met814=
ENST00000406569.8:c.1910_1913delinsGAGA	ENSP00000514464.1:n.1910_1913delinsGAGA
ENST00000644110.2:c.*2144_*2147delinsGAGA	ENSP00000496392.2:n.*2144_*2147delinsGAGA
ENST00000699752.1:c.2394_2397delinsGAGA	ENSP00000514561.1:p.Met798=
ENST00000699753.1:c.*1971_*1974delinsGAGA	ENSP00000514562.1:n.*1971_*1974delinsGAGA
ENST00000699754.1:c.2352_2355delinsGAGA	ENSP00000514563.1:p.Met784=
ENST00000699755.1:c.*1949_*1952delinsGAGA	ENSP00000514564.1:n.*1949_*1952delinsGAGA
ENST00000699756.1:c.*2137_*2140delinsGAGA	ENSP00000514565.1:n.*2137_*2140delinsGAGA
ENST00000699757.1:c.*1807_*1810delinsGAGA	ENSP00000514566.1:n.*1807_*1810delinsGAGA
ENST00000699758.1:c.*1807_*1810delinsGAGA	ENSP00000514567.1:n.*1807_*1810delinsGAGA
ENST00000699759.1:n.3404_3407delinsGAGA
ENST00000699760.1:c.2232_2235delinsGAGA	ENSP00000514568.1:p.Met744=
ENST00000699761.1:c.2145_2148delinsGAGA	ENSP00000514569.1:p.Met715=
ENST00000699762.1:c.1977_1980delinsGAGA	ENSP00000514570.1:p.Met659=
ENST00000699763.1:c.*1640_*1643delinsGAGA	ENSP00000514571.1:n.*1640_*1643delinsGAGA
ENST00000699764.1:c.*868_*871delinsGAGA	ENSP00000514572.1:n.*868_*871delinsGAGA
ENST00000699765.1:c.*1545_*1548delinsGAGA	ENSP00000514573.1:n.*1545_*1548delinsGAGA
ENST00000699766.1:c.2583_2586delinsGAGA	ENSP00000514574.1:p.Met861=
ENST00000699767.1:c.*191_*194delinsGAGA	ENSP00000514575.1:n.*191_*194delinsGAGA
ENST00000699768.1:c.2406_2409delinsGAGA	ENSP00000514576.1:p.Met802=
ENST00000699811.1:c.2145_2148delinsGAGA	ENSP00000514614.1:p.Met715=
ENST00000699813.1:n.2663_2666delinsGAGA
ENST00000699814.1:c.2173_2176delinsGAGA
ENST00000699815.1:c.*2081_*2084delinsGAGA	ENSP00000514616.1:n.*2081_*2084delinsGAGA
ENST00000699816.1:c.*1440_*1443delinsGAGA	ENSP00000514617.1:n.*1440_*1443delinsGAGA
ENST00000699817.1:c.*2144_*2147delinsGAGA	ENSP00000514618.1:n.*2144_*2147delinsGAGA
ENST00000699818.1:c.2145_2148delinsGAGA	ENSP00000514619.1:p.Met715=
ENST00000699819.1:c.*1707_*1710delinsGAGA	ENSP00000514620.1:n.*1707_*1710delinsGAGA
ENST00000699820.1:c.*488_*491delinsGAGA	ENSP00000514621.1:n.*488_*491delinsGAGA
ENST00000699821.1:c.2178_2181delinsGAGA	ENSP00000514622.1:p.Met726=
ENST00000699822.1:c.*2002_*2005delinsGAGA	ENSP00000514623.1:n.*2002_*2005delinsGAGA
ENST00000699823.1:c.2145_2148delinsGAGA	ENSP00000514624.1:p.Met715=
ENST00000699824.1:c.*2053_*2056delinsGAGA	ENSP00000514625.1:n.*2053_*2056delinsGAGA
ENST00000699825.1:c.1989_1992delinsGAGA	ENSP00000514626.1:p.Met663=
ENST00000699826.1:c.*1949_*1952delinsGAGA	ENSP00000514627.1:n.*1949_*1952delinsGAGA
ENST00000699827.1:c.2382_2385delinsGAGA	ENSP00000514628.1:p.Met794=
ENST00000699828.1:c.*1640_*1643delinsGAGA	ENSP00000514629.1:n.*1640_*1643delinsGAGA
ENST00000699833.1:n.4322_4325delinsGAGA
ENST00000699837.1:c.2145_2148delinsGAGA	ENSP00000514635.1:p.Met715=
ENST00000699838.1:c.*2450_*2453delinsGAGA	ENSP00000514636.1:n.*2450_*2453delinsGAGA
ENST00000699839.1:c.2736_2739delinsGAGA	ENSP00000514637.1:p.Met912=
ENST00000699916.1:c.*1807_*1810delinsGAGA	ENSP00000514684.1:n.*1807_*1810delinsGAGA
ENST00000699917.1:c.*1999_*2002delinsGAGA	ENSP00000514685.1:n.*1999_*2002delinsGAGA
ENST00000699918.1:c.*2051_*2054delinsGAGA	ENSP00000514686.1:n.*2051_*2054delinsGAGA
ENST00000699919.1:c.*2137_*2140delinsGAGA	ENSP00000514687.1:n.*2137_*2140delinsGAGA
ENST00000699920.1:c.*2186_*2189delinsGAGA	ENSP00000514688.1:n.*2186_*2189delinsGAGA
ENST00000699928.1:c.*488_*491delinsGAGA	ENSP00000514693.1:n.*488_*491delinsGAGA
ENST00000699951.1:c.*1603_*1606delinsGAGA	ENSP00000514706.1:n.*1603_*1606delinsGAGA
ENST00000699952.1:c.*104_*107delinsGAGA	ENSP00000514707.1:n.*104_*107delinsGAGA
ENST00000265849.12:c.2550_2553delinsGAGA MANE Select	ENSP00000265849.7:p.Met850=
ENST00000642292.1:c.2145_2148delinsGAGA	ENSP00000495524.1:p.Met715=
ENST00000642456.1:c.2145_2148delinsGAGA	ENSP00000493814.1:p.Met715=
ENST00000643595.1:c.*1949_*1952delinsGAGA	ENSP00000494497.1:n.*1949_*1952delinsGAGA
ENST00000644110.1:c.2232_2235delinsGAGA	ENSP00000496392.1:p.Met744=
ENST00000265849.11:c.2550_2553delinsGAGA	ENSP00000265849.7:p.Met850=
ENST00000382321.5:c.1347_1350delinsGAGA	ENSP00000371758.4:p.Met449=
ENST00000441476.6:c.2232_2235delinsGAGA	ENSP00000392843.2:p.Met744=
NM_000535.5:c.2550_2553delinsGAGA , LRG_161t1:c.2550_2553delinsGAGA	NP_000526.1:p.Met850=
NR_003085.2:n.2632_2635delinsGAGA
XM_006715742.2:c.2544_2547delinsGAGA	XP_006715805.1:p.Met848=
XM_006715744.2:c.1617_1620delinsGAGA	XP_006715807.1:p.Met539=
XM_011515427.1:c.2595_2598delinsGAGA	XP_011513729.1:p.Met865=
XM_011515428.1:c.2439_2442delinsGAGA	XP_011513730.1:p.Met813=
XM_011515429.1:c.2232_2235delinsGAGA	XP_011513731.1:p.Met744=
XM_011515430.1:c.2232_2235delinsGAGA	XP_011513732.1:p.Met744=
NM_000535.6:c.2550_2553delinsGAGA	NP_000526.2:p.Met850=
NM_001322003.1:c.2145_2148delinsGAGA	NP_001308932.1:p.Met715=
NM_001322004.1:c.2145_2148delinsGAGA	NP_001308933.1:p.Met715=
NM_001322005.1:c.2145_2148delinsGAGA	NP_001308934.1:p.Met715=
NM_001322006.1:c.2394_2397delinsGAGA	NP_001308935.1:p.Met798=
NM_001322007.1:c.2232_2235delinsGAGA	NP_001308936.1:p.Met744=
NM_001322008.1:c.2232_2235delinsGAGA	NP_001308937.1:p.Met744=
NM_001322009.1:c.2178_2181delinsGAGA	NP_001308938.1:p.Met726=
NM_001322010.1:c.1989_1992delinsGAGA	NP_001308939.1:p.Met663=
NM_001322011.1:c.1617_1620delinsGAGA	NP_001308940.1:p.Met539=
NM_001322012.1:c.1617_1620delinsGAGA	NP_001308941.1:p.Met539=
NM_001322013.1:c.1977_1980delinsGAGA	NP_001308942.1:p.Met659=
NM_001322014.1:c.2583_2586delinsGAGA	NP_001308943.1:p.Met861=
NM_001322015.1:c.2241_2244delinsGAGA	NP_001308944.1:p.Met747=
NR_136154.1:n.2594_2597delinsGAGA
XM_006715744.4:c.1617_1620delinsGAGA	XP_006715807.1:p.Met539=
XM_017012342.2:c.1617_1620delinsGAGA	XP_016867831.1:p.Met539=
XM_024446800.1:c.1989_1992delinsGAGA	XP_024302568.1:p.Met663=
NM_000535.7:c.2550_2553delinsGAGA MANE Select	NP_000526.2:p.Met850=
NM_001322003.2:c.2145_2148delinsGAGA	NP_001308932.1:p.Met715=
NM_001322004.2:c.2145_2148delinsGAGA	NP_001308933.1:p.Met715=
NM_001322005.2:c.2145_2148delinsGAGA	NP_001308934.1:p.Met715=
NM_001322006.2:c.2394_2397delinsGAGA	NP_001308935.1:p.Met798=
NM_001322008.2:c.2232_2235delinsGAGA	NP_001308937.1:p.Met744=
NM_001322009.2:c.2178_2181delinsGAGA	NP_001308938.1:p.Met726=
NM_001322010.2:c.1989_1992delinsGAGA	NP_001308939.1:p.Met663=
NM_001322011.2:c.1617_1620delinsGAGA	NP_001308940.1:p.Met539=
NM_001322012.2:c.1617_1620delinsGAGA	NP_001308941.1:p.Met539=
NM_001322013.2:c.1977_1980delinsGAGA	NP_001308942.1:p.Met659=
NM_001322014.2:c.2583_2586delinsGAGA	NP_001308943.1:p.Met861=
NM_001322015.2:c.2241_2244delinsGAGA	NP_001308944.1:p.Met747=
NM_001322007.2:c.2232_2235delinsGAGA	NP_001308936.1:p.Met744=