Canonical Allele Identifier: CA1685217292

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982873A= , CM000669.2:g.5982873A=	GRCh38
NC_000007.13:g.6022504A= , CM000669.1:g.6022504A=	GRCh37
NC_000007.12:g.5989030A=	NCBI36
NG_008466.1:g.31234T= , LRG_161:g.31234T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1521T=	ENSP00000514615.2:n.*1521T=
ENST00000699840.2:c.2122T=	ENSP00000514638.2:p.Phe708=
ENST00000699930.2:c.2017T=	ENSP00000514695.2:p.Phe673=
ENST00000406569.8:c.1678+4214T=	ENSP00000514464.1:n.1678+4214T=
ENST00000644110.2:c.*1719T=	ENSP00000496392.2:n.*1719T=
ENST00000699752.1:c.1969T=	ENSP00000514561.1:p.Phe657=
ENST00000699753.1:c.*1546T=	ENSP00000514562.1:n.*1546T=
ENST00000699754.1:c.1927T=	ENSP00000514563.1:p.Phe643=
ENST00000699755.1:c.*1524T=	ENSP00000514564.1:n.*1524T=
ENST00000699756.1:c.*1712T=	ENSP00000514565.1:n.*1712T=
ENST00000699757.1:c.*1382T=	ENSP00000514566.1:n.*1382T=
ENST00000699758.1:c.*1382T=	ENSP00000514567.1:n.*1382T=
ENST00000699759.1:n.2979T=
ENST00000699760.1:c.1807T=	ENSP00000514568.1:p.Phe603=
ENST00000699761.1:c.1720T=	ENSP00000514569.1:p.Phe574=
ENST00000699762.1:c.1552T=	ENSP00000514570.1:p.Phe518=
ENST00000699763.1:c.*1215T=	ENSP00000514571.1:n.*1215T=
ENST00000699764.1:c.*443T=	ENSP00000514572.1:n.*443T=
ENST00000699765.1:c.*1221T=	ENSP00000514573.1:n.*1221T=
ENST00000699766.1:c.2125T=	ENSP00000514574.1:p.Phe709=
ENST00000699767.1:c.2125T=	ENSP00000514575.1:p.Phe709=
ENST00000699768.1:c.2125T=	ENSP00000514576.1:p.Phe709=
ENST00000699811.1:c.1720T=	ENSP00000514614.1:p.Phe574=
ENST00000699813.1:n.2238T=
ENST00000699814.1:c.1748T=
ENST00000699815.1:c.*1656T=	ENSP00000514616.1:n.*1656T=
ENST00000699816.1:c.*1015T=	ENSP00000514617.1:n.*1015T=
ENST00000699817.1:c.*1719T=	ENSP00000514618.1:n.*1719T=
ENST00000699818.1:c.1720T=	ENSP00000514619.1:p.Phe574=
ENST00000699819.1:c.*1282T=	ENSP00000514620.1:n.*1282T=
ENST00000699820.1:c.*63T=	ENSP00000514621.1:n.*63T=
ENST00000699821.1:c.1720T=	ENSP00000514622.1:p.Phe574=
ENST00000699822.1:c.*1577T=	ENSP00000514623.1:n.*1577T=
ENST00000699823.1:c.1720T=	ENSP00000514624.1:p.Phe574=
ENST00000699824.1:c.*1628T=	ENSP00000514625.1:n.*1628T=
ENST00000699825.1:c.1564T=	ENSP00000514626.1:p.Phe522=
ENST00000699826.1:c.*1524T=	ENSP00000514627.1:n.*1524T=
ENST00000699827.1:c.1957T=	ENSP00000514628.1:p.Phe653=
ENST00000699828.1:c.*1215T=	ENSP00000514629.1:n.*1215T=
ENST00000699833.1:n.3897T=
ENST00000699837.1:c.1720T=	ENSP00000514635.1:p.Phe574=
ENST00000699838.1:c.*2025T=	ENSP00000514636.1:n.*2025T=
ENST00000699839.1:c.2311T=	ENSP00000514637.1:p.Phe771=
ENST00000699916.1:c.*1382T=	ENSP00000514684.1:n.*1382T=
ENST00000699917.1:c.*1574T=	ENSP00000514685.1:n.*1574T=
ENST00000699918.1:c.*1626T=	ENSP00000514686.1:n.*1626T=
ENST00000699919.1:c.*1712T=	ENSP00000514687.1:n.*1712T=
ENST00000699920.1:c.*1761T=	ENSP00000514688.1:n.*1761T=
ENST00000699928.1:c.*63T=	ENSP00000514693.1:n.*63T=
ENST00000699951.1:c.*1221T=	ENSP00000514706.1:n.*1221T=
ENST00000699952.1:c.804-9331T=	ENSP00000514707.1:n.804-9331T=
ENST00000265849.12:c.2125T= MANE Select	ENSP00000265849.7:p.Phe709=
ENST00000642292.1:c.1720T=	ENSP00000495524.1:p.Phe574=
ENST00000642456.1:c.1720T=	ENSP00000493814.1:p.Phe574=
ENST00000643595.1:c.*1524T=	ENSP00000494497.1:n.*1524T=
ENST00000644110.1:c.1807T=	ENSP00000496392.1:p.Phe603=
ENST00000265849.11:c.2125T=	ENSP00000265849.7:p.Phe709=
ENST00000382321.5:c.922T=	ENSP00000371758.4:p.Phe308=
ENST00000406569.7:n.1678+4214T=
ENST00000441476.6:c.1807T=	ENSP00000392843.2:p.Phe603=
NM_000535.5:c.2125T= , LRG_161t1:c.2125T=	NP_000526.1:p.Phe709=
NR_003085.2:n.2207T=
XM_006715742.2:c.2119T=	XP_006715805.1:p.Phe707=
XM_006715744.2:c.1192T=	XP_006715807.1:p.Phe398=
XM_011515427.1:c.2170T=	XP_011513729.1:p.Phe724=
XM_011515428.1:c.2014T=	XP_011513730.1:p.Phe672=
XM_011515429.1:c.1807T=	XP_011513731.1:p.Phe603=
XM_011515430.1:c.1807T=	XP_011513732.1:p.Phe603=
NM_000535.6:c.2125T=	NP_000526.2:p.Phe709=
NM_001322003.1:c.1720T=	NP_001308932.1:p.Phe574=
NM_001322004.1:c.1720T=	NP_001308933.1:p.Phe574=
NM_001322005.1:c.1720T=	NP_001308934.1:p.Phe574=
NM_001322006.1:c.1969T=	NP_001308935.1:p.Phe657=
NM_001322007.1:c.1807T=	NP_001308936.1:p.Phe603=
NM_001322008.1:c.1807T=	NP_001308937.1:p.Phe603=
NM_001322009.1:c.1720T=	NP_001308938.1:p.Phe574=
NM_001322010.1:c.1564T=	NP_001308939.1:p.Phe522=
NM_001322011.1:c.1192T=	NP_001308940.1:p.Phe398=
NM_001322012.1:c.1192T=	NP_001308941.1:p.Phe398=
NM_001322013.1:c.1552T=	NP_001308942.1:p.Phe518=
NM_001322014.1:c.2125T=	NP_001308943.1:p.Phe709=
NM_001322015.1:c.1816T=	NP_001308944.1:p.Phe606=
NR_136154.1:n.2212T=
XM_006715744.4:c.1192T=	XP_006715807.1:p.Phe398=
XM_017012342.2:c.1192T=	XP_016867831.1:p.Phe398=
XM_024446800.1:c.1564T=	XP_024302568.1:p.Phe522=
NM_000535.7:c.2125T= MANE Select	NP_000526.2:p.Phe709=
NM_001322003.2:c.1720T=	NP_001308932.1:p.Phe574=
NM_001322004.2:c.1720T=	NP_001308933.1:p.Phe574=
NM_001322005.2:c.1720T=	NP_001308934.1:p.Phe574=
NM_001322006.2:c.1969T=	NP_001308935.1:p.Phe657=
NM_001322008.2:c.1807T=	NP_001308937.1:p.Phe603=
NM_001322009.2:c.1720T=	NP_001308938.1:p.Phe574=
NM_001322010.2:c.1564T=	NP_001308939.1:p.Phe522=
NM_001322011.2:c.1192T=	NP_001308940.1:p.Phe398=
NM_001322012.2:c.1192T=	NP_001308941.1:p.Phe398=
NM_001322013.2:c.1552T=	NP_001308942.1:p.Phe518=
NM_001322014.2:c.2125T=	NP_001308943.1:p.Phe709=
NM_001322015.2:c.1816T=	NP_001308944.1:p.Phe606=
NM_001322007.2:c.1807T=	NP_001308936.1:p.Phe603=