Canonical Allele Identifier: CA1685217260

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982862C= , CM000669.2:g.5982862C=	GRCh38
NC_000007.13:g.6022493C= , CM000669.1:g.6022493C=	GRCh37
NC_000007.12:g.5989019C=	NCBI36
NG_008466.1:g.31245G= , LRG_161:g.31245G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1532G=	ENSP00000514615.2:n.*1532G=
ENST00000699840.2:c.2133G=	ENSP00000514638.2:p.Leu711=
ENST00000699930.2:c.2028G=	ENSP00000514695.2:p.Leu676=
ENST00000406569.8:c.1678+4225G=	ENSP00000514464.1:n.1678+4225G=
ENST00000644110.2:c.*1730G=	ENSP00000496392.2:n.*1730G=
ENST00000699752.1:c.1980G=	ENSP00000514561.1:p.Leu660=
ENST00000699753.1:c.*1557G=	ENSP00000514562.1:n.*1557G=
ENST00000699754.1:c.1938G=	ENSP00000514563.1:p.Leu646=
ENST00000699755.1:c.*1535G=	ENSP00000514564.1:n.*1535G=
ENST00000699756.1:c.*1723G=	ENSP00000514565.1:n.*1723G=
ENST00000699757.1:c.*1393G=	ENSP00000514566.1:n.*1393G=
ENST00000699758.1:c.*1393G=	ENSP00000514567.1:n.*1393G=
ENST00000699759.1:n.2990G=
ENST00000699760.1:c.1818G=	ENSP00000514568.1:p.Leu606=
ENST00000699761.1:c.1731G=	ENSP00000514569.1:p.Leu577=
ENST00000699762.1:c.1563G=	ENSP00000514570.1:p.Leu521=
ENST00000699763.1:c.*1226G=	ENSP00000514571.1:n.*1226G=
ENST00000699764.1:c.*454G=	ENSP00000514572.1:n.*454G=
ENST00000699765.1:c.*1232G=	ENSP00000514573.1:n.*1232G=
ENST00000699766.1:c.2136G=	ENSP00000514574.1:p.Leu712=
ENST00000699767.1:c.2136G=	ENSP00000514575.1:p.Leu712=
ENST00000699768.1:c.2136G=	ENSP00000514576.1:p.Leu712=
ENST00000699811.1:c.1731G=	ENSP00000514614.1:p.Leu577=
ENST00000699813.1:n.2249G=
ENST00000699814.1:c.1759G=
ENST00000699815.1:c.*1667G=	ENSP00000514616.1:n.*1667G=
ENST00000699816.1:c.*1026G=	ENSP00000514617.1:n.*1026G=
ENST00000699817.1:c.*1730G=	ENSP00000514618.1:n.*1730G=
ENST00000699818.1:c.1731G=	ENSP00000514619.1:p.Leu577=
ENST00000699819.1:c.*1293G=	ENSP00000514620.1:n.*1293G=
ENST00000699820.1:c.*74G=	ENSP00000514621.1:n.*74G=
ENST00000699821.1:c.1731G=	ENSP00000514622.1:p.Leu577=
ENST00000699822.1:c.*1588G=	ENSP00000514623.1:n.*1588G=
ENST00000699823.1:c.1731G=	ENSP00000514624.1:p.Leu577=
ENST00000699824.1:c.*1639G=	ENSP00000514625.1:n.*1639G=
ENST00000699825.1:c.1575G=	ENSP00000514626.1:p.Leu525=
ENST00000699826.1:c.*1535G=	ENSP00000514627.1:n.*1535G=
ENST00000699827.1:c.1968G=	ENSP00000514628.1:p.Leu656=
ENST00000699828.1:c.*1226G=	ENSP00000514629.1:n.*1226G=
ENST00000699833.1:n.3908G=
ENST00000699837.1:c.1731G=	ENSP00000514635.1:p.Leu577=
ENST00000699838.1:c.*2036G=	ENSP00000514636.1:n.*2036G=
ENST00000699839.1:c.2322G=	ENSP00000514637.1:p.Leu774=
ENST00000699916.1:c.*1393G=	ENSP00000514684.1:n.*1393G=
ENST00000699917.1:c.*1585G=	ENSP00000514685.1:n.*1585G=
ENST00000699918.1:c.*1637G=	ENSP00000514686.1:n.*1637G=
ENST00000699919.1:c.*1723G=	ENSP00000514687.1:n.*1723G=
ENST00000699920.1:c.*1772G=	ENSP00000514688.1:n.*1772G=
ENST00000699928.1:c.*74G=	ENSP00000514693.1:n.*74G=
ENST00000699951.1:c.*1232G=	ENSP00000514706.1:n.*1232G=
ENST00000699952.1:c.804-9320G=	ENSP00000514707.1:n.804-9320G=
ENST00000265849.12:c.2136G= MANE Select	ENSP00000265849.7:p.Leu712=
ENST00000642292.1:c.1731G=	ENSP00000495524.1:p.Leu577=
ENST00000642456.1:c.1731G=	ENSP00000493814.1:p.Leu577=
ENST00000643595.1:c.*1535G=	ENSP00000494497.1:n.*1535G=
ENST00000644110.1:c.1818G=	ENSP00000496392.1:p.Leu606=
ENST00000265849.11:c.2136G=	ENSP00000265849.7:p.Leu712=
ENST00000382321.5:c.933G=	ENSP00000371758.4:p.Leu311=
ENST00000406569.7:n.1678+4225G=
ENST00000441476.6:c.1818G=	ENSP00000392843.2:p.Leu606=
NM_000535.5:c.2136G= , LRG_161t1:c.2136G=	NP_000526.1:p.Leu712=
NR_003085.2:n.2218G=
XM_006715742.2:c.2130G=	XP_006715805.1:p.Leu710=
XM_006715744.2:c.1203G=	XP_006715807.1:p.Leu401=
XM_011515427.1:c.2181G=	XP_011513729.1:p.Leu727=
XM_011515428.1:c.2025G=	XP_011513730.1:p.Leu675=
XM_011515429.1:c.1818G=	XP_011513731.1:p.Leu606=
XM_011515430.1:c.1818G=	XP_011513732.1:p.Leu606=
NM_000535.6:c.2136G=	NP_000526.2:p.Leu712=
NM_001322003.1:c.1731G=	NP_001308932.1:p.Leu577=
NM_001322004.1:c.1731G=	NP_001308933.1:p.Leu577=
NM_001322005.1:c.1731G=	NP_001308934.1:p.Leu577=
NM_001322006.1:c.1980G=	NP_001308935.1:p.Leu660=
NM_001322007.1:c.1818G=	NP_001308936.1:p.Leu606=
NM_001322008.1:c.1818G=	NP_001308937.1:p.Leu606=
NM_001322009.1:c.1731G=	NP_001308938.1:p.Leu577=
NM_001322010.1:c.1575G=	NP_001308939.1:p.Leu525=
NM_001322011.1:c.1203G=	NP_001308940.1:p.Leu401=
NM_001322012.1:c.1203G=	NP_001308941.1:p.Leu401=
NM_001322013.1:c.1563G=	NP_001308942.1:p.Leu521=
NM_001322014.1:c.2136G=	NP_001308943.1:p.Leu712=
NM_001322015.1:c.1827G=	NP_001308944.1:p.Leu609=
NR_136154.1:n.2223G=
XM_006715744.4:c.1203G=	XP_006715807.1:p.Leu401=
XM_017012342.2:c.1203G=	XP_016867831.1:p.Leu401=
XM_024446800.1:c.1575G=	XP_024302568.1:p.Leu525=
NM_000535.7:c.2136G= MANE Select	NP_000526.2:p.Leu712=
NM_001322003.2:c.1731G=	NP_001308932.1:p.Leu577=
NM_001322004.2:c.1731G=	NP_001308933.1:p.Leu577=
NM_001322005.2:c.1731G=	NP_001308934.1:p.Leu577=
NM_001322006.2:c.1980G=	NP_001308935.1:p.Leu660=
NM_001322008.2:c.1818G=	NP_001308937.1:p.Leu606=
NM_001322009.2:c.1731G=	NP_001308938.1:p.Leu577=
NM_001322010.2:c.1575G=	NP_001308939.1:p.Leu525=
NM_001322011.2:c.1203G=	NP_001308940.1:p.Leu401=
NM_001322012.2:c.1203G=	NP_001308941.1:p.Leu401=
NM_001322013.2:c.1563G=	NP_001308942.1:p.Leu521=
NM_001322014.2:c.2136G=	NP_001308943.1:p.Leu712=
NM_001322015.2:c.1827G=	NP_001308944.1:p.Leu609=
NM_001322007.2:c.1818G=	NP_001308936.1:p.Leu606=