Canonical Allele Identifier: CA153227529

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1458544
• ClinVar RCV Id: RCV001956423 ; RCV002407188 ; RCV003453882
• dbSNP Id: rs756358866
• gnomAD v2: 7-6026536-A-AAT
• gnomAD v4: 7-5986905-A-AAT
• MyVariant Identifiers: chr7:g.6026536_6026537insAT (hg19) ; chr7:g.5986905_5986906insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986906_5986907insTA , CM000669.2:g.5986906_5986907insTA	GRCh38
NC_000007.13:g.6026537_6026538insTA , CM000669.1:g.6026537_6026538insTA	GRCh37
NC_000007.12:g.5993063_5993064insTA	NCBI36
NG_008466.1:g.27201_27202insAT , LRG_161:g.27201_27202insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1255_*1256insAT	ENSP00000514615.2:n.*1255_*1256insAT
ENST00000699840.2:c.1856_1857insAT	ENSP00000514638.2:p.Phe619LeufsTer4
ENST00000699930.2:c.1751_1752insAT	ENSP00000514695.2:p.Phe584LeufsTer4
ENST00000406569.8:c.1678+181_1678+182insAT	ENSP00000514464.1:n.1678+181_1678+182insAT
ENST00000644110.2:c.*1453_*1454insAT	ENSP00000496392.2:n.*1453_*1454insAT
ENST00000699752.1:c.1703_1704insAT	ENSP00000514561.1:p.Phe568LeufsTer4
ENST00000699753.1:c.*1280_*1281insAT	ENSP00000514562.1:n.*1280_*1281insAT
ENST00000699754.1:c.1661_1662insAT	ENSP00000514563.1:p.Phe554LeufsTer4
ENST00000699755.1:c.*1258_*1259insAT	ENSP00000514564.1:n.*1258_*1259insAT
ENST00000699756.1:c.*1446_*1447insAT	ENSP00000514565.1:n.*1446_*1447insAT
ENST00000699757.1:c.*1116_*1117insAT	ENSP00000514566.1:n.*1116_*1117insAT
ENST00000699758.1:c.*1116_*1117insAT	ENSP00000514567.1:n.*1116_*1117insAT
ENST00000699759.1:n.2713_2714insAT
ENST00000699760.1:c.1541_1542insAT	ENSP00000514568.1:p.Phe514LeufsTer4
ENST00000699761.1:c.1454_1455insAT	ENSP00000514569.1:p.Phe485LeufsTer4
ENST00000699762.1:c.1286_1287insAT	ENSP00000514570.1:p.Phe429LeufsTer4
ENST00000699763.1:c.*949_*950insAT	ENSP00000514571.1:n.*949_*950insAT
ENST00000699764.1:c.*177_*178insAT	ENSP00000514572.1:n.*177_*178insAT
ENST00000699765.1:c.*955_*956insAT	ENSP00000514573.1:n.*955_*956insAT
ENST00000699766.1:c.1859_1860insAT	ENSP00000514574.1:p.Phe620LeufsTer4
ENST00000699767.1:c.1859_1860insAT	ENSP00000514575.1:p.Phe620LeufsTer4
ENST00000699768.1:c.1859_1860insAT	ENSP00000514576.1:p.Phe620LeufsTer4
ENST00000699811.1:c.1454_1455insAT	ENSP00000514614.1:p.Phe485LeufsTer4
ENST00000699813.1:n.1972_1973insAT
ENST00000699814.1:c.1482_1483insAT
ENST00000699815.1:c.*1390_*1391insAT	ENSP00000514616.1:n.*1390_*1391insAT
ENST00000699816.1:c.*749_*750insAT	ENSP00000514617.1:n.*749_*750insAT
ENST00000699817.1:c.*1453_*1454insAT	ENSP00000514618.1:n.*1453_*1454insAT
ENST00000699818.1:c.1454_1455insAT	ENSP00000514619.1:p.Phe485LeufsTer4
ENST00000699819.1:c.*1016_*1017insAT	ENSP00000514620.1:n.*1016_*1017insAT
ENST00000699820.1:c.1144+2894_1144+2895insAT	ENSP00000514621.1:n.1144+2894_1144+2895insAT
ENST00000699821.1:c.1454_1455insAT	ENSP00000514622.1:p.Phe485LeufsTer4
ENST00000699822.1:c.*1311_*1312insAT	ENSP00000514623.1:n.*1311_*1312insAT
ENST00000699823.1:c.1454_1455insAT	ENSP00000514624.1:p.Phe485LeufsTer4
ENST00000699824.1:c.*1362_*1363insAT	ENSP00000514625.1:n.*1362_*1363insAT
ENST00000699825.1:c.1298_1299insAT	ENSP00000514626.1:p.Phe433LeufsTer4
ENST00000699826.1:c.*1258_*1259insAT	ENSP00000514627.1:n.*1258_*1259insAT
ENST00000699827.1:c.1691_1692insAT	ENSP00000514628.1:p.Phe564LeufsTer4
ENST00000699828.1:c.*949_*950insAT	ENSP00000514629.1:n.*949_*950insAT
ENST00000699833.1:n.3631_3632insAT
ENST00000699837.1:c.1454_1455insAT	ENSP00000514635.1:p.Phe485LeufsTer4
ENST00000699838.1:c.*1759_*1760insAT	ENSP00000514636.1:n.*1759_*1760insAT
ENST00000699839.1:c.2045_2046insAT	ENSP00000514637.1:p.Phe682LeufsTer4
ENST00000699916.1:c.*1116_*1117insAT	ENSP00000514684.1:n.*1116_*1117insAT
ENST00000699917.1:c.*1308_*1309insAT	ENSP00000514685.1:n.*1308_*1309insAT
ENST00000699918.1:c.*1360_*1361insAT	ENSP00000514686.1:n.*1360_*1361insAT
ENST00000699919.1:c.*1446_*1447insAT	ENSP00000514687.1:n.*1446_*1447insAT
ENST00000699920.1:c.*1495_*1496insAT	ENSP00000514688.1:n.*1495_*1496insAT
ENST00000699928.1:c.989-3915_989-3914insAT	ENSP00000514693.1:n.989-3915_989-3914insAT
ENST00000699951.1:c.*955_*956insAT	ENSP00000514706.1:n.*955_*956insAT
ENST00000699952.1:c.803+10420_803+10421insAT	ENSP00000514707.1:n.803+10420_803+10421insAT
ENST00000265849.12:c.1859_1860insAT MANE Select	ENSP00000265849.7:p.Phe620LeufsTer4
ENST00000642292.1:c.1454_1455insAT	ENSP00000495524.1:p.Phe485LeufsTer4
ENST00000642456.1:c.1454_1455insAT	ENSP00000493814.1:p.Phe485LeufsTer4
ENST00000643595.1:c.*1258_*1259insAT	ENSP00000494497.1:n.*1258_*1259insAT
ENST00000644110.1:c.1541_1542insAT	ENSP00000496392.1:p.Phe514LeufsTer4
ENST00000265849.11:c.1859_1860insAT	ENSP00000265849.7:p.Phe620LeufsTer4
ENST00000382321.5:c.804-3915_804-3914insAT	ENSP00000371758.4:n.804-3915_804-3914insAT
ENST00000406569.7:n.1678+181_1678+182insAT
ENST00000441476.6:c.1541_1542insAT	ENSP00000392843.2:p.Phe514LeufsTer4
ENST00000469652.1:n.63-4001_63-4000insAT
NM_000535.5:c.1859_1860insAT , LRG_161t1:c.1859_1860insAT	NP_000526.1:p.Phe620LeufsTer4
NR_003085.2:n.1941_1942insAT
XM_006715742.2:c.1853_1854insAT	XP_006715805.1:p.Phe618LeufsTer4
XM_006715744.2:c.926_927insAT	XP_006715807.1:p.Phe309LeufsTer4
XM_011515427.1:c.1904_1905insAT	XP_011513729.1:p.Phe635LeufsTer4
XM_011515428.1:c.1748_1749insAT	XP_011513730.1:p.Phe583LeufsTer4
XM_011515429.1:c.1541_1542insAT	XP_011513731.1:p.Phe514LeufsTer4
XM_011515430.1:c.1541_1542insAT	XP_011513732.1:p.Phe514LeufsTer4
NM_000535.6:c.1859_1860insAT	NP_000526.2:p.Phe620LeufsTer4
NM_001322003.1:c.1454_1455insAT	NP_001308932.1:p.Phe485LeufsTer4
NM_001322004.1:c.1454_1455insAT	NP_001308933.1:p.Phe485LeufsTer4
NM_001322005.1:c.1454_1455insAT	NP_001308934.1:p.Phe485LeufsTer4
NM_001322006.1:c.1703_1704insAT	NP_001308935.1:p.Phe568LeufsTer4
NM_001322007.1:c.1541_1542insAT	NP_001308936.1:p.Phe514LeufsTer4
NM_001322008.1:c.1541_1542insAT	NP_001308937.1:p.Phe514LeufsTer4
NM_001322009.1:c.1454_1455insAT	NP_001308938.1:p.Phe485LeufsTer4
NM_001322010.1:c.1298_1299insAT	NP_001308939.1:p.Phe433LeufsTer4
NM_001322011.1:c.926_927insAT	NP_001308940.1:p.Phe309LeufsTer4
NM_001322012.1:c.926_927insAT	NP_001308941.1:p.Phe309LeufsTer4
NM_001322013.1:c.1286_1287insAT	NP_001308942.1:p.Phe429LeufsTer4
NM_001322014.1:c.1859_1860insAT	NP_001308943.1:p.Phe620LeufsTer4
NM_001322015.1:c.1550_1551insAT	NP_001308944.1:p.Phe517LeufsTer4
NR_136154.1:n.1946_1947insAT
XM_006715744.4:c.926_927insAT	XP_006715807.1:p.Phe309LeufsTer4
XM_017012342.2:c.926_927insAT	XP_016867831.1:p.Phe309LeufsTer4
XM_024446800.1:c.1298_1299insAT	XP_024302568.1:p.Phe433LeufsTer4
NM_000535.7:c.1859_1860insAT MANE Select	NP_000526.2:p.Phe620LeufsTer4
NM_001322003.2:c.1454_1455insAT	NP_001308932.1:p.Phe485LeufsTer4
NM_001322004.2:c.1454_1455insAT	NP_001308933.1:p.Phe485LeufsTer4
NM_001322005.2:c.1454_1455insAT	NP_001308934.1:p.Phe485LeufsTer4
NM_001322006.2:c.1703_1704insAT	NP_001308935.1:p.Phe568LeufsTer4
NM_001322008.2:c.1541_1542insAT	NP_001308937.1:p.Phe514LeufsTer4
NM_001322009.2:c.1454_1455insAT	NP_001308938.1:p.Phe485LeufsTer4
NM_001322010.2:c.1298_1299insAT	NP_001308939.1:p.Phe433LeufsTer4
NM_001322011.2:c.926_927insAT	NP_001308940.1:p.Phe309LeufsTer4
NM_001322012.2:c.926_927insAT	NP_001308941.1:p.Phe309LeufsTer4
NM_001322013.2:c.1286_1287insAT	NP_001308942.1:p.Phe429LeufsTer4
NM_001322014.2:c.1859_1860insAT	NP_001308943.1:p.Phe620LeufsTer4
NM_001322015.2:c.1550_1551insAT	NP_001308944.1:p.Phe517LeufsTer4
NM_001322007.2:c.1541_1542insAT	NP_001308936.1:p.Phe514LeufsTer4