Canonical Allele Identifier: CA1685226008

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986852_5986853delinsTG , CM000669.2:g.5986852_5986853delinsTG	GRCh38
NC_000007.13:g.6026483_6026484delinsTG , CM000669.1:g.6026483_6026484delinsTG	GRCh37
NC_000007.12:g.5993009_5993010delinsTG	NCBI36
NG_008466.1:g.27254_27255delinsCA , LRG_161:g.27254_27255delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1308_*1309delinsCA	ENSP00000514615.2:n.*1308_*1309delinsCA
ENST00000699840.2:c.1909_1910delinsCA	ENSP00000514638.2:p.Gln637=
ENST00000699930.2:c.1804_1805delinsCA	ENSP00000514695.2:p.Gln602=
ENST00000406569.8:c.1678+234_1678+235delinsCA	ENSP00000514464.1:n.1678+234_1678+235deli...
ENST00000644110.2:c.*1506_*1507delinsCA	ENSP00000496392.2:n.*1506_*1507delinsCA
ENST00000699752.1:c.1756_1757delinsCA	ENSP00000514561.1:p.Gln586=
ENST00000699753.1:c.*1333_*1334delinsCA	ENSP00000514562.1:n.*1333_*1334delinsCA
ENST00000699754.1:c.1714_1715delinsCA	ENSP00000514563.1:p.Gln572=
ENST00000699755.1:c.*1311_*1312delinsCA	ENSP00000514564.1:n.*1311_*1312delinsCA
ENST00000699756.1:c.*1499_*1500delinsCA	ENSP00000514565.1:n.*1499_*1500delinsCA
ENST00000699757.1:c.*1169_*1170delinsCA	ENSP00000514566.1:n.*1169_*1170delinsCA
ENST00000699758.1:c.*1169_*1170delinsCA	ENSP00000514567.1:n.*1169_*1170delinsCA
ENST00000699759.1:n.2766_2767delinsCA
ENST00000699760.1:c.1594_1595delinsCA	ENSP00000514568.1:p.Gln532=
ENST00000699761.1:c.1507_1508delinsCA	ENSP00000514569.1:p.Gln503=
ENST00000699762.1:c.1339_1340delinsCA	ENSP00000514570.1:p.Gln447=
ENST00000699763.1:c.*1002_*1003delinsCA	ENSP00000514571.1:n.*1002_*1003delinsCA
ENST00000699764.1:c.*230_*231delinsCA	ENSP00000514572.1:n.*230_*231delinsCA
ENST00000699765.1:c.*1008_*1009delinsCA	ENSP00000514573.1:n.*1008_*1009delinsCA
ENST00000699766.1:c.1912_1913delinsCA	ENSP00000514574.1:p.Gln638=
ENST00000699767.1:c.1912_1913delinsCA	ENSP00000514575.1:p.Gln638=
ENST00000699768.1:c.1912_1913delinsCA	ENSP00000514576.1:p.Gln638=
ENST00000699811.1:c.1507_1508delinsCA	ENSP00000514614.1:p.Gln503=
ENST00000699813.1:n.2025_2026delinsCA
ENST00000699814.1:c.1535_1536delinsCA
ENST00000699815.1:c.*1443_*1444delinsCA	ENSP00000514616.1:n.*1443_*1444delinsCA
ENST00000699816.1:c.*802_*803delinsCA	ENSP00000514617.1:n.*802_*803delinsCA
ENST00000699817.1:c.*1506_*1507delinsCA	ENSP00000514618.1:n.*1506_*1507delinsCA
ENST00000699818.1:c.1507_1508delinsCA	ENSP00000514619.1:p.Gln503=
ENST00000699819.1:c.*1069_*1070delinsCA	ENSP00000514620.1:n.*1069_*1070delinsCA
ENST00000699820.1:c.1144+2947_1144+2948delinsCA	ENSP00000514621.1:n.1144+2947_1144+2948de...
ENST00000699821.1:c.1507_1508delinsCA	ENSP00000514622.1:p.Gln503=
ENST00000699822.1:c.*1364_*1365delinsCA	ENSP00000514623.1:n.*1364_*1365delinsCA
ENST00000699823.1:c.1507_1508delinsCA	ENSP00000514624.1:p.Gln503=
ENST00000699824.1:c.*1415_*1416delinsCA	ENSP00000514625.1:n.*1415_*1416delinsCA
ENST00000699825.1:c.1351_1352delinsCA	ENSP00000514626.1:p.Gln451=
ENST00000699826.1:c.*1311_*1312delinsCA	ENSP00000514627.1:n.*1311_*1312delinsCA
ENST00000699827.1:c.1744_1745delinsCA	ENSP00000514628.1:p.Gln582=
ENST00000699828.1:c.*1002_*1003delinsCA	ENSP00000514629.1:n.*1002_*1003delinsCA
ENST00000699833.1:n.3684_3685delinsCA
ENST00000699837.1:c.1507_1508delinsCA	ENSP00000514635.1:p.Gln503=
ENST00000699838.1:c.*1812_*1813delinsCA	ENSP00000514636.1:n.*1812_*1813delinsCA
ENST00000699839.1:c.2098_2099delinsCA	ENSP00000514637.1:p.Gln700=
ENST00000699916.1:c.*1169_*1170delinsCA	ENSP00000514684.1:n.*1169_*1170delinsCA
ENST00000699917.1:c.*1361_*1362delinsCA	ENSP00000514685.1:n.*1361_*1362delinsCA
ENST00000699918.1:c.*1413_*1414delinsCA	ENSP00000514686.1:n.*1413_*1414delinsCA
ENST00000699919.1:c.*1499_*1500delinsCA	ENSP00000514687.1:n.*1499_*1500delinsCA
ENST00000699920.1:c.*1548_*1549delinsCA	ENSP00000514688.1:n.*1548_*1549delinsCA
ENST00000699928.1:c.989-3862_989-3861delinsCA	ENSP00000514693.1:n.989-3862_989-3861deli...
ENST00000699951.1:c.*1008_*1009delinsCA	ENSP00000514706.1:n.*1008_*1009delinsCA
ENST00000699952.1:c.803+10473_803+10474delinsCA	ENSP00000514707.1:n.803+10473_803+10474de...
ENST00000265849.12:c.1912_1913delinsCA MANE Select	ENSP00000265849.7:p.Gln638=
ENST00000642292.1:c.1507_1508delinsCA	ENSP00000495524.1:p.Gln503=
ENST00000642456.1:c.1507_1508delinsCA	ENSP00000493814.1:p.Gln503=
ENST00000643595.1:c.*1311_*1312delinsCA	ENSP00000494497.1:n.*1311_*1312delinsCA
ENST00000644110.1:c.1594_1595delinsCA	ENSP00000496392.1:p.Gln532=
ENST00000265849.11:c.1912_1913delinsCA	ENSP00000265849.7:p.Gln638=
ENST00000382321.5:c.804-3862_804-3861delinsCA	ENSP00000371758.4:n.804-3862_804-3861deli...
ENST00000406569.7:n.1678+234_1678+235delinsCA
ENST00000441476.6:c.1594_1595delinsCA	ENSP00000392843.2:p.Gln532=
ENST00000469652.1:n.63-3948_63-3947delinsCA
NM_000535.5:c.1912_1913delinsCA , LRG_161t1:c.1912_1913delinsCA	NP_000526.1:p.Gln638=
NR_003085.2:n.1994_1995delinsCA
XM_006715742.2:c.1906_1907delinsCA	XP_006715805.1:p.Gln636=
XM_006715744.2:c.979_980delinsCA	XP_006715807.1:p.Gln327=
XM_011515427.1:c.1957_1958delinsCA	XP_011513729.1:p.Gln653=
XM_011515428.1:c.1801_1802delinsCA	XP_011513730.1:p.Gln601=
XM_011515429.1:c.1594_1595delinsCA	XP_011513731.1:p.Gln532=
XM_011515430.1:c.1594_1595delinsCA	XP_011513732.1:p.Gln532=
NM_000535.6:c.1912_1913delinsCA	NP_000526.2:p.Gln638=
NM_001322003.1:c.1507_1508delinsCA	NP_001308932.1:p.Gln503=
NM_001322004.1:c.1507_1508delinsCA	NP_001308933.1:p.Gln503=
NM_001322005.1:c.1507_1508delinsCA	NP_001308934.1:p.Gln503=
NM_001322006.1:c.1756_1757delinsCA	NP_001308935.1:p.Gln586=
NM_001322007.1:c.1594_1595delinsCA	NP_001308936.1:p.Gln532=
NM_001322008.1:c.1594_1595delinsCA	NP_001308937.1:p.Gln532=
NM_001322009.1:c.1507_1508delinsCA	NP_001308938.1:p.Gln503=
NM_001322010.1:c.1351_1352delinsCA	NP_001308939.1:p.Gln451=
NM_001322011.1:c.979_980delinsCA	NP_001308940.1:p.Gln327=
NM_001322012.1:c.979_980delinsCA	NP_001308941.1:p.Gln327=
NM_001322013.1:c.1339_1340delinsCA	NP_001308942.1:p.Gln447=
NM_001322014.1:c.1912_1913delinsCA	NP_001308943.1:p.Gln638=
NM_001322015.1:c.1603_1604delinsCA	NP_001308944.1:p.Gln535=
NR_136154.1:n.1999_2000delinsCA
XM_006715744.4:c.979_980delinsCA	XP_006715807.1:p.Gln327=
XM_017012342.2:c.979_980delinsCA	XP_016867831.1:p.Gln327=
XM_024446800.1:c.1351_1352delinsCA	XP_024302568.1:p.Gln451=
NM_000535.7:c.1912_1913delinsCA MANE Select	NP_000526.2:p.Gln638=
NM_001322003.2:c.1507_1508delinsCA	NP_001308932.1:p.Gln503=
NM_001322004.2:c.1507_1508delinsCA	NP_001308933.1:p.Gln503=
NM_001322005.2:c.1507_1508delinsCA	NP_001308934.1:p.Gln503=
NM_001322006.2:c.1756_1757delinsCA	NP_001308935.1:p.Gln586=
NM_001322008.2:c.1594_1595delinsCA	NP_001308937.1:p.Gln532=
NM_001322009.2:c.1507_1508delinsCA	NP_001308938.1:p.Gln503=
NM_001322010.2:c.1351_1352delinsCA	NP_001308939.1:p.Gln451=
NM_001322011.2:c.979_980delinsCA	NP_001308940.1:p.Gln327=
NM_001322012.2:c.979_980delinsCA	NP_001308941.1:p.Gln327=
NM_001322013.2:c.1339_1340delinsCA	NP_001308942.1:p.Gln447=
NM_001322014.2:c.1912_1913delinsCA	NP_001308943.1:p.Gln638=
NM_001322015.2:c.1603_1604delinsCA	NP_001308944.1:p.Gln535=
NM_001322007.2:c.1594_1595delinsCA	NP_001308936.1:p.Gln532=