Canonical Allele Identifier: CA913189365

Gene: PMS2

Linked Data

• ClinVar Variation Id: 619889
• ClinVar RCV Id: RCV000759916 ; RCV000811623 ; RCV002290006 ; RCV002406685 ; RCV003453564
• dbSNP Id: rs1562626070

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986853del , CM000669.2:g.5986853del	GRCh38
NC_000007.13:g.6026484del , CM000669.1:g.6026484del	GRCh37
NC_000007.12:g.5993010del	NCBI36
NG_008466.1:g.27254del , LRG_161:g.27254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1308del	ENSP00000514615.2:n.*1308del
ENST00000699840.2:c.1909del	ENSP00000514638.2:p.Gln637LysfsTer27
ENST00000699930.2:c.1804del	ENSP00000514695.2:p.Gln602LysfsTer27
ENST00000406569.8:c.1678+234del	ENSP00000514464.1:n.1678+234del
ENST00000644110.2:c.*1506del	ENSP00000496392.2:n.*1506del
ENST00000699752.1:c.1756del	ENSP00000514561.1:p.Gln586LysfsTer27
ENST00000699753.1:c.*1333del	ENSP00000514562.1:n.*1333del
ENST00000699754.1:c.1714del	ENSP00000514563.1:p.Gln572LysfsTer27
ENST00000699755.1:c.*1311del	ENSP00000514564.1:n.*1311del
ENST00000699756.1:c.*1499del	ENSP00000514565.1:n.*1499del
ENST00000699757.1:c.*1169del	ENSP00000514566.1:n.*1169del
ENST00000699758.1:c.*1169del	ENSP00000514567.1:n.*1169del
ENST00000699759.1:n.2766del
ENST00000699760.1:c.1594del	ENSP00000514568.1:p.Gln532LysfsTer27
ENST00000699761.1:c.1507del	ENSP00000514569.1:p.Gln503LysfsTer27
ENST00000699762.1:c.1339del	ENSP00000514570.1:p.Gln447LysfsTer27
ENST00000699763.1:c.*1002del	ENSP00000514571.1:n.*1002del
ENST00000699764.1:c.*230del	ENSP00000514572.1:n.*230del
ENST00000699765.1:c.*1008del	ENSP00000514573.1:n.*1008del
ENST00000699766.1:c.1912del	ENSP00000514574.1:p.Gln638LysfsTer27
ENST00000699767.1:c.1912del	ENSP00000514575.1:p.Gln638LysfsTer27
ENST00000699768.1:c.1912del	ENSP00000514576.1:p.Gln638LysfsTer27
ENST00000699811.1:c.1507del	ENSP00000514614.1:p.Gln503LysfsTer27
ENST00000699813.1:n.2025del
ENST00000699814.1:c.1535del
ENST00000699815.1:c.*1443del	ENSP00000514616.1:n.*1443del
ENST00000699816.1:c.*802del	ENSP00000514617.1:n.*802del
ENST00000699817.1:c.*1506del	ENSP00000514618.1:n.*1506del
ENST00000699818.1:c.1507del	ENSP00000514619.1:p.Gln503LysfsTer27
ENST00000699819.1:c.*1069del	ENSP00000514620.1:n.*1069del
ENST00000699820.1:c.1144+2947del	ENSP00000514621.1:n.1144+2947del
ENST00000699821.1:c.1507del	ENSP00000514622.1:p.Gln503LysfsTer27
ENST00000699822.1:c.*1364del	ENSP00000514623.1:n.*1364del
ENST00000699823.1:c.1507del	ENSP00000514624.1:p.Gln503LysfsTer27
ENST00000699824.1:c.*1415del	ENSP00000514625.1:n.*1415del
ENST00000699825.1:c.1351del	ENSP00000514626.1:p.Gln451LysfsTer27
ENST00000699826.1:c.*1311del	ENSP00000514627.1:n.*1311del
ENST00000699827.1:c.1744del	ENSP00000514628.1:p.Gln582LysfsTer27
ENST00000699828.1:c.*1002del	ENSP00000514629.1:n.*1002del
ENST00000699833.1:n.3684del
ENST00000699837.1:c.1507del	ENSP00000514635.1:p.Gln503LysfsTer27
ENST00000699838.1:c.*1812del	ENSP00000514636.1:n.*1812del
ENST00000699839.1:c.2098del	ENSP00000514637.1:p.Gln700LysfsTer27
ENST00000699916.1:c.*1169del	ENSP00000514684.1:n.*1169del
ENST00000699917.1:c.*1361del	ENSP00000514685.1:n.*1361del
ENST00000699918.1:c.*1413del	ENSP00000514686.1:n.*1413del
ENST00000699919.1:c.*1499del	ENSP00000514687.1:n.*1499del
ENST00000699920.1:c.*1548del	ENSP00000514688.1:n.*1548del
ENST00000699928.1:c.989-3862del	ENSP00000514693.1:n.989-3862del
ENST00000699951.1:c.*1008del	ENSP00000514706.1:n.*1008del
ENST00000699952.1:c.803+10473del	ENSP00000514707.1:n.803+10473del
ENST00000265849.12:c.1912del MANE Select	ENSP00000265849.7:p.Gln638LysfsTer27
ENST00000642292.1:c.1507del	ENSP00000495524.1:p.Gln503LysfsTer27
ENST00000642456.1:c.1507del	ENSP00000493814.1:p.Gln503LysfsTer27
ENST00000643595.1:c.*1311del	ENSP00000494497.1:n.*1311del
ENST00000644110.1:c.1594del	ENSP00000496392.1:p.Gln532LysfsTer27
ENST00000265849.11:c.1912del	ENSP00000265849.7:p.Gln638LysfsTer27
ENST00000382321.5:c.804-3862del	ENSP00000371758.4:n.804-3862del
ENST00000406569.7:n.1678+234del
ENST00000441476.6:c.1594del	ENSP00000392843.2:p.Gln532LysfsTer27
ENST00000469652.1:n.63-3948del
NM_000535.5:c.1912del , LRG_161t1:c.1912del	NP_000526.1:p.Gln638LysfsTer27
NR_003085.2:n.1994del
XM_006715742.2:c.1906del	XP_006715805.1:p.Gln636LysfsTer27
XM_006715744.2:c.979del	XP_006715807.1:p.Gln327LysfsTer27
XM_011515427.1:c.1957del	XP_011513729.1:p.Gln653LysfsTer27
XM_011515428.1:c.1801del	XP_011513730.1:p.Gln601LysfsTer27
XM_011515429.1:c.1594del	XP_011513731.1:p.Gln532LysfsTer27
XM_011515430.1:c.1594del	XP_011513732.1:p.Gln532LysfsTer27
NM_000535.6:c.1912del	NP_000526.2:p.Gln638LysfsTer27
NM_001322003.1:c.1507del	NP_001308932.1:p.Gln503LysfsTer27
NM_001322004.1:c.1507del	NP_001308933.1:p.Gln503LysfsTer27
NM_001322005.1:c.1507del	NP_001308934.1:p.Gln503LysfsTer27
NM_001322006.1:c.1756del	NP_001308935.1:p.Gln586LysfsTer27
NM_001322007.1:c.1594del	NP_001308936.1:p.Gln532LysfsTer27
NM_001322008.1:c.1594del	NP_001308937.1:p.Gln532LysfsTer27
NM_001322009.1:c.1507del	NP_001308938.1:p.Gln503LysfsTer27
NM_001322010.1:c.1351del	NP_001308939.1:p.Gln451LysfsTer27
NM_001322011.1:c.979del	NP_001308940.1:p.Gln327LysfsTer27
NM_001322012.1:c.979del	NP_001308941.1:p.Gln327LysfsTer27
NM_001322013.1:c.1339del	NP_001308942.1:p.Gln447LysfsTer27
NM_001322014.1:c.1912del	NP_001308943.1:p.Gln638LysfsTer27
NM_001322015.1:c.1603del	NP_001308944.1:p.Gln535LysfsTer27
NR_136154.1:n.1999del
XM_006715744.4:c.979del	XP_006715807.1:p.Gln327LysfsTer27
XM_017012342.2:c.979del	XP_016867831.1:p.Gln327LysfsTer27
XM_024446800.1:c.1351del	XP_024302568.1:p.Gln451LysfsTer27
NM_000535.7:c.1912del MANE Select	NP_000526.2:p.Gln638LysfsTer27
NM_001322003.2:c.1507del	NP_001308932.1:p.Gln503LysfsTer27
NM_001322004.2:c.1507del	NP_001308933.1:p.Gln503LysfsTer27
NM_001322005.2:c.1507del	NP_001308934.1:p.Gln503LysfsTer27
NM_001322006.2:c.1756del	NP_001308935.1:p.Gln586LysfsTer27
NM_001322008.2:c.1594del	NP_001308937.1:p.Gln532LysfsTer27
NM_001322009.2:c.1507del	NP_001308938.1:p.Gln503LysfsTer27
NM_001322010.2:c.1351del	NP_001308939.1:p.Gln451LysfsTer27
NM_001322011.2:c.979del	NP_001308940.1:p.Gln327LysfsTer27
NM_001322012.2:c.979del	NP_001308941.1:p.Gln327LysfsTer27
NM_001322013.2:c.1339del	NP_001308942.1:p.Gln447LysfsTer27
NM_001322014.2:c.1912del	NP_001308943.1:p.Gln638LysfsTer27
NM_001322015.2:c.1603del	NP_001308944.1:p.Gln535LysfsTer27
NM_001322007.2:c.1594del	NP_001308936.1:p.Gln532LysfsTer27