Canonical Allele Identifier: CA16605114

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5978654C>T , CM000669.2:g.5978654C>T	GRCh38
NC_000007.13:g.6018285C>T , CM000669.1:g.6018285C>T	GRCh37
NC_000007.12:g.5984811C>T	NCBI36
NG_008466.1:g.35453G>A , LRG_161:g.35453G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000535.7:c.2217G>A MANE Select	NP_000526.2:p.Leu739=
ENST00000265849.12:c.2217G>A MANE Select	ENSP00000265849.7:p.Leu739=
NM_000535.5:c.2217G>A , LRG_161t1:c.2217G>A	NP_000526.1:p.Leu739=
NM_000535.6:c.2217G>A	NP_000526.2:p.Leu739=
NM_001322003.1:c.1812G>A	NP_001308932.1:p.Leu604=
NM_001322003.2:c.1812G>A	NP_001308932.1:p.Leu604=
NM_001322004.1:c.1812G>A	NP_001308933.1:p.Leu604=
NM_001322004.2:c.1812G>A	NP_001308933.1:p.Leu604=
NM_001322005.1:c.1812G>A	NP_001308934.1:p.Leu604=
NM_001322005.2:c.1812G>A	NP_001308934.1:p.Leu604=
NM_001322006.1:c.2061G>A	NP_001308935.1:p.Leu687=
NM_001322006.2:c.2061G>A	NP_001308935.1:p.Leu687=
NM_001322007.1:c.1899G>A	NP_001308936.1:p.Leu633=
NM_001322007.2:c.1899G>A	NP_001308936.1:p.Leu633=
NM_001322008.1:c.1899G>A	NP_001308937.1:p.Leu633=
NM_001322008.2:c.1899G>A	NP_001308937.1:p.Leu633=
NM_001322009.1:c.1812G>A	NP_001308938.1:p.Leu604=
NM_001322009.2:c.1812G>A	NP_001308938.1:p.Leu604=
NM_001322010.1:c.1656G>A	NP_001308939.1:p.Leu552=
NM_001322010.2:c.1656G>A	NP_001308939.1:p.Leu552=
NM_001322011.1:c.1284G>A	NP_001308940.1:p.Leu428=
NM_001322011.2:c.1284G>A	NP_001308940.1:p.Leu428=
NM_001322012.1:c.1284G>A	NP_001308941.1:p.Leu428=
NM_001322012.2:c.1284G>A	NP_001308941.1:p.Leu428=
NM_001322013.1:c.1644G>A	NP_001308942.1:p.Leu548=
NM_001322013.2:c.1644G>A	NP_001308942.1:p.Leu548=
NM_001322014.1:c.2217G>A	NP_001308943.1:p.Leu739=
NM_001322014.2:c.2217G>A	NP_001308943.1:p.Leu739=
NM_001322015.1:c.1908G>A	NP_001308944.1:p.Leu636=
NM_001322015.2:c.1908G>A	NP_001308944.1:p.Leu636=
NR_003085.2:n.2299G>A
NR_136154.1:n.2304G>A
ENST00000265849.11:c.2217G>A	ENSP00000265849.7:p.Leu739=
ENST00000382321.5:c.1014G>A	ENSP00000371758.4:p.Leu338=
ENST00000406569.7:n.1679-940G>A
ENST00000406569.8:c.1679-940G>A	ENSP00000514464.1:n.1679-940G>A
ENST00000441476.6:c.1899G>A	ENSP00000392843.2:p.Leu633=
ENST00000642292.1:c.1812G>A	ENSP00000495524.1:p.Leu604=
ENST00000642456.1:c.1812G>A	ENSP00000493814.1:p.Leu604=
ENST00000643595.1:c.*1616G>A	ENSP00000494497.1:n.*1616G>A
ENST00000644110.1:c.1899G>A	ENSP00000496392.1:p.Leu633=
ENST00000644110.2:c.*1811G>A	ENSP00000496392.2:n.*1811G>A
ENST00000699752.1:c.2061G>A	ENSP00000514561.1:p.Leu687=
ENST00000699753.1:c.*1638G>A	ENSP00000514562.1:n.*1638G>A
ENST00000699754.1:c.2019G>A	ENSP00000514563.1:p.Leu673=
ENST00000699755.1:c.*1616G>A	ENSP00000514564.1:n.*1616G>A
ENST00000699756.1:c.*1804G>A	ENSP00000514565.1:n.*1804G>A
ENST00000699757.1:c.*1474G>A	ENSP00000514566.1:n.*1474G>A
ENST00000699758.1:c.*1474G>A	ENSP00000514567.1:n.*1474G>A
ENST00000699759.1:n.3071G>A
ENST00000699760.1:c.1899G>A	ENSP00000514568.1:p.Leu633=
ENST00000699761.1:c.1812G>A	ENSP00000514569.1:p.Leu604=
ENST00000699762.1:c.1644G>A	ENSP00000514570.1:p.Leu548=
ENST00000699763.1:c.*1307G>A	ENSP00000514571.1:n.*1307G>A
ENST00000699764.1:c.*535G>A	ENSP00000514572.1:n.*535G>A
ENST00000699765.1:c.*1271-897G>A	ENSP00000514573.1:n.*1271-897G>A
ENST00000699766.1:c.2217G>A	ENSP00000514574.1:p.Leu739=
ENST00000699767.1:c.2217G>A	ENSP00000514575.1:p.Leu739=
ENST00000699768.1:c.2175-940G>A	ENSP00000514576.1:n.2175-940G>A
ENST00000699811.1:c.1812G>A	ENSP00000514614.1:p.Leu604=
ENST00000699813.1:n.2330G>A
ENST00000699814.1:c.1840G>A
ENST00000699814.2:c.*1613G>A	ENSP00000514615.2:n.*1613G>A
ENST00000699815.1:c.*1748G>A	ENSP00000514616.1:n.*1748G>A
ENST00000699816.1:c.*1107G>A	ENSP00000514617.1:n.*1107G>A
ENST00000699817.1:c.*1811G>A	ENSP00000514618.1:n.*1811G>A
ENST00000699818.1:c.1812G>A	ENSP00000514619.1:p.Leu604=
ENST00000699819.1:c.*1374G>A	ENSP00000514620.1:n.*1374G>A
ENST00000699820.1:c.*155G>A	ENSP00000514621.1:n.*155G>A
ENST00000699821.1:c.1812G>A	ENSP00000514622.1:p.Leu604=
ENST00000699822.1:c.*1669G>A	ENSP00000514623.1:n.*1669G>A
ENST00000699823.1:c.1812G>A	ENSP00000514624.1:p.Leu604=
ENST00000699824.1:c.*1720G>A	ENSP00000514625.1:n.*1720G>A
ENST00000699825.1:c.1656G>A	ENSP00000514626.1:p.Leu552=
ENST00000699826.1:c.*1616G>A	ENSP00000514627.1:n.*1616G>A
ENST00000699827.1:c.2049G>A	ENSP00000514628.1:p.Leu683=
ENST00000699828.1:c.*1307G>A	ENSP00000514629.1:n.*1307G>A
ENST00000699833.1:n.3989G>A
ENST00000699837.1:c.1812G>A	ENSP00000514635.1:p.Leu604=
ENST00000699838.1:c.*2117G>A	ENSP00000514636.1:n.*2117G>A
ENST00000699839.1:c.2403G>A	ENSP00000514637.1:p.Leu801=
ENST00000699840.2:c.2214G>A	ENSP00000514638.2:p.Leu738=
ENST00000699916.1:c.*1474G>A	ENSP00000514684.1:n.*1474G>A
ENST00000699917.1:c.*1666G>A	ENSP00000514685.1:n.*1666G>A
ENST00000699918.1:c.*1718G>A	ENSP00000514686.1:n.*1718G>A
ENST00000699919.1:c.*1804G>A	ENSP00000514687.1:n.*1804G>A
ENST00000699920.1:c.*1853G>A	ENSP00000514688.1:n.*1853G>A
ENST00000699928.1:c.*155G>A	ENSP00000514693.1:n.*155G>A
ENST00000699930.2:c.2109G>A	ENSP00000514695.2:p.Leu703=
ENST00000699951.1:c.*1313G>A	ENSP00000514706.1:n.*1313G>A
ENST00000699952.1:c.804-5112G>A	ENSP00000514707.1:n.804-5112G>A
XM_006715742.2:c.2211G>A	XP_006715805.1:p.Leu737=
XM_006715744.2:c.1284G>A	XP_006715807.1:p.Leu428=
XM_006715744.4:c.1284G>A	XP_006715807.1:p.Leu428=
XM_011515427.1:c.2262G>A	XP_011513729.1:p.Leu754=
XM_011515428.1:c.2106G>A	XP_011513730.1:p.Leu702=
XM_011515429.1:c.1899G>A	XP_011513731.1:p.Leu633=
XM_011515430.1:c.1899G>A	XP_011513732.1:p.Leu633=
XM_017012342.2:c.1284G>A	XP_016867831.1:p.Leu428=
XM_024446800.1:c.1656G>A	XP_024302568.1:p.Leu552=