Canonical Allele Identifier: CA1685217881

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982981A= , CM000669.2:g.5982981A=	GRCh38
NC_000007.13:g.6022612A= , CM000669.1:g.6022612A=	GRCh37
NC_000007.12:g.5989138A=	NCBI36
NG_008466.1:g.31126T= , LRG_161:g.31126T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1413T=	ENSP00000514615.2:n.*1413T=
ENST00000699840.2:c.2014T=	ENSP00000514638.2:p.Phe672=
ENST00000699930.2:c.1909T=	ENSP00000514695.2:p.Phe637=
ENST00000406569.8:c.1678+4106T=	ENSP00000514464.1:n.1678+4106T=
ENST00000644110.2:c.*1611T=	ENSP00000496392.2:n.*1611T=
ENST00000699752.1:c.1861T=	ENSP00000514561.1:p.Phe621=
ENST00000699753.1:c.*1438T=	ENSP00000514562.1:n.*1438T=
ENST00000699754.1:c.1819T=	ENSP00000514563.1:p.Phe607=
ENST00000699755.1:c.*1416T=	ENSP00000514564.1:n.*1416T=
ENST00000699756.1:c.*1604T=	ENSP00000514565.1:n.*1604T=
ENST00000699757.1:c.*1274T=	ENSP00000514566.1:n.*1274T=
ENST00000699758.1:c.*1274T=	ENSP00000514567.1:n.*1274T=
ENST00000699759.1:n.2871T=
ENST00000699760.1:c.1699T=	ENSP00000514568.1:p.Phe567=
ENST00000699761.1:c.1612T=	ENSP00000514569.1:p.Phe538=
ENST00000699762.1:c.1444T=	ENSP00000514570.1:p.Phe482=
ENST00000699763.1:c.*1107T=	ENSP00000514571.1:n.*1107T=
ENST00000699764.1:c.*335T=	ENSP00000514572.1:n.*335T=
ENST00000699765.1:c.*1113T=	ENSP00000514573.1:n.*1113T=
ENST00000699766.1:c.2017T=	ENSP00000514574.1:p.Phe673=
ENST00000699767.1:c.2017T=	ENSP00000514575.1:p.Phe673=
ENST00000699768.1:c.2017T=	ENSP00000514576.1:p.Phe673=
ENST00000699811.1:c.1612T=	ENSP00000514614.1:p.Phe538=
ENST00000699813.1:n.2130T=
ENST00000699814.1:c.1640T=
ENST00000699815.1:c.*1548T=	ENSP00000514616.1:n.*1548T=
ENST00000699816.1:c.*907T=	ENSP00000514617.1:n.*907T=
ENST00000699817.1:c.*1611T=	ENSP00000514618.1:n.*1611T=
ENST00000699818.1:c.1612T=	ENSP00000514619.1:p.Phe538=
ENST00000699819.1:c.*1174T=	ENSP00000514620.1:n.*1174T=
ENST00000699820.1:c.1155T=	ENSP00000514621.1:p.Cys385=
ENST00000699821.1:c.1612T=	ENSP00000514622.1:p.Phe538=
ENST00000699822.1:c.*1469T=	ENSP00000514623.1:n.*1469T=
ENST00000699823.1:c.1612T=	ENSP00000514624.1:p.Phe538=
ENST00000699824.1:c.*1520T=	ENSP00000514625.1:n.*1520T=
ENST00000699825.1:c.1456T=	ENSP00000514626.1:p.Phe486=
ENST00000699826.1:c.*1416T=	ENSP00000514627.1:n.*1416T=
ENST00000699827.1:c.1849T=	ENSP00000514628.1:p.Phe617=
ENST00000699828.1:c.*1107T=	ENSP00000514629.1:n.*1107T=
ENST00000699833.1:n.3789T=
ENST00000699837.1:c.1612T=	ENSP00000514635.1:p.Phe538=
ENST00000699838.1:c.*1917T=	ENSP00000514636.1:n.*1917T=
ENST00000699839.1:c.2203T=	ENSP00000514637.1:p.Phe735=
ENST00000699916.1:c.*1274T=	ENSP00000514684.1:n.*1274T=
ENST00000699917.1:c.*1466T=	ENSP00000514685.1:n.*1466T=
ENST00000699918.1:c.*1518T=	ENSP00000514686.1:n.*1518T=
ENST00000699919.1:c.*1604T=	ENSP00000514687.1:n.*1604T=
ENST00000699920.1:c.*1653T=	ENSP00000514688.1:n.*1653T=
ENST00000699928.1:c.999T=	ENSP00000514693.1:p.Cys333=
ENST00000699951.1:c.*1113T=	ENSP00000514706.1:n.*1113T=
ENST00000699952.1:c.804-9439T=	ENSP00000514707.1:n.804-9439T=
ENST00000265849.12:c.2017T= MANE Select	ENSP00000265849.7:p.Phe673=
ENST00000642292.1:c.1612T=	ENSP00000495524.1:p.Phe538=
ENST00000642456.1:c.1612T=	ENSP00000493814.1:p.Phe538=
ENST00000643595.1:c.*1416T=	ENSP00000494497.1:n.*1416T=
ENST00000644110.1:c.1699T=	ENSP00000496392.1:p.Phe567=
ENST00000265849.11:c.2017T=	ENSP00000265849.7:p.Phe673=
ENST00000382321.5:c.814T=	ENSP00000371758.4:p.Phe272=
ENST00000406569.7:n.1678+4106T=
ENST00000441476.6:c.1699T=	ENSP00000392843.2:p.Phe567=
ENST00000469652.1:n.63-76T=
NM_000535.5:c.2017T= , LRG_161t1:c.2017T=	NP_000526.1:p.Phe673=
NR_003085.2:n.2099T=
XM_006715742.2:c.2011T=	XP_006715805.1:p.Phe671=
XM_006715744.2:c.1084T=	XP_006715807.1:p.Phe362=
XM_011515427.1:c.2062T=	XP_011513729.1:p.Phe688=
XM_011515428.1:c.1906T=	XP_011513730.1:p.Phe636=
XM_011515429.1:c.1699T=	XP_011513731.1:p.Phe567=
XM_011515430.1:c.1699T=	XP_011513732.1:p.Phe567=
NM_000535.6:c.2017T=	NP_000526.2:p.Phe673=
NM_001322003.1:c.1612T=	NP_001308932.1:p.Phe538=
NM_001322004.1:c.1612T=	NP_001308933.1:p.Phe538=
NM_001322005.1:c.1612T=	NP_001308934.1:p.Phe538=
NM_001322006.1:c.1861T=	NP_001308935.1:p.Phe621=
NM_001322007.1:c.1699T=	NP_001308936.1:p.Phe567=
NM_001322008.1:c.1699T=	NP_001308937.1:p.Phe567=
NM_001322009.1:c.1612T=	NP_001308938.1:p.Phe538=
NM_001322010.1:c.1456T=	NP_001308939.1:p.Phe486=
NM_001322011.1:c.1084T=	NP_001308940.1:p.Phe362=
NM_001322012.1:c.1084T=	NP_001308941.1:p.Phe362=
NM_001322013.1:c.1444T=	NP_001308942.1:p.Phe482=
NM_001322014.1:c.2017T=	NP_001308943.1:p.Phe673=
NM_001322015.1:c.1708T=	NP_001308944.1:p.Phe570=
NR_136154.1:n.2104T=
XM_006715744.4:c.1084T=	XP_006715807.1:p.Phe362=
XM_017012342.2:c.1084T=	XP_016867831.1:p.Phe362=
XM_024446800.1:c.1456T=	XP_024302568.1:p.Phe486=
NM_000535.7:c.2017T= MANE Select	NP_000526.2:p.Phe673=
NM_001322003.2:c.1612T=	NP_001308932.1:p.Phe538=
NM_001322004.2:c.1612T=	NP_001308933.1:p.Phe538=
NM_001322005.2:c.1612T=	NP_001308934.1:p.Phe538=
NM_001322006.2:c.1861T=	NP_001308935.1:p.Phe621=
NM_001322008.2:c.1699T=	NP_001308937.1:p.Phe567=
NM_001322009.2:c.1612T=	NP_001308938.1:p.Phe538=
NM_001322010.2:c.1456T=	NP_001308939.1:p.Phe486=
NM_001322011.2:c.1084T=	NP_001308940.1:p.Phe362=
NM_001322012.2:c.1084T=	NP_001308941.1:p.Phe362=
NM_001322013.2:c.1444T=	NP_001308942.1:p.Phe482=
NM_001322014.2:c.2017T=	NP_001308943.1:p.Phe673=
NM_001322015.2:c.1708T=	NP_001308944.1:p.Phe570=
NM_001322007.2:c.1699T=	NP_001308936.1:p.Phe567=