Canonical Allele Identifier: CA366734860

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973460C>G , CM000669.2:g.5973460C>G	GRCh38
NC_000007.13:g.6013091C>G , CM000669.1:g.6013091C>G	GRCh37
NC_000007.12:g.5979617C>G	NCBI36
NG_008466.1:g.40647G>C , LRG_161:g.40647G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000535.7:c.2528G>C MANE Select	NP_000526.2:p.Cys843Ser
ENST00000265849.12:c.2528G>C MANE Select	ENSP00000265849.7:p.Cys843Ser
NM_000535.5:c.2528G>C , LRG_161t1:c.2528G>C	NP_000526.1:p.Cys843Ser
NM_000535.6:c.2528G>C	NP_000526.2:p.Cys843Ser
NM_001322003.1:c.2123G>C	NP_001308932.1:p.Cys708Ser
NM_001322003.2:c.2123G>C	NP_001308932.1:p.Cys708Ser
NM_001322004.1:c.2123G>C	NP_001308933.1:p.Cys708Ser
NM_001322004.2:c.2123G>C	NP_001308933.1:p.Cys708Ser
NM_001322005.1:c.2123G>C	NP_001308934.1:p.Cys708Ser
NM_001322005.2:c.2123G>C	NP_001308934.1:p.Cys708Ser
NM_001322006.1:c.2372G>C	NP_001308935.1:p.Cys791Ser
NM_001322006.2:c.2372G>C	NP_001308935.1:p.Cys791Ser
NM_001322007.1:c.2210G>C	NP_001308936.1:p.Cys737Ser
NM_001322007.2:c.2210G>C	NP_001308936.1:p.Cys737Ser
NM_001322008.1:c.2210G>C	NP_001308937.1:p.Cys737Ser
NM_001322008.2:c.2210G>C	NP_001308937.1:p.Cys737Ser
NM_001322009.1:c.2156G>C	NP_001308938.1:p.Cys719Ser
NM_001322009.2:c.2156G>C	NP_001308938.1:p.Cys719Ser
NM_001322010.1:c.1967G>C	NP_001308939.1:p.Cys656Ser
NM_001322010.2:c.1967G>C	NP_001308939.1:p.Cys656Ser
NM_001322011.1:c.1595G>C	NP_001308940.1:p.Cys532Ser
NM_001322011.2:c.1595G>C	NP_001308940.1:p.Cys532Ser
NM_001322012.1:c.1595G>C	NP_001308941.1:p.Cys532Ser
NM_001322012.2:c.1595G>C	NP_001308941.1:p.Cys532Ser
NM_001322013.1:c.1955G>C	NP_001308942.1:p.Cys652Ser
NM_001322013.2:c.1955G>C	NP_001308942.1:p.Cys652Ser
NM_001322014.1:c.2561G>C	NP_001308943.1:p.Cys854Ser
NM_001322014.2:c.2561G>C	NP_001308943.1:p.Cys854Ser
NM_001322015.1:c.2219G>C	NP_001308944.1:p.Cys740Ser
NM_001322015.2:c.2219G>C	NP_001308944.1:p.Cys740Ser
NR_003085.2:n.2610G>C
NR_136154.1:n.2572G>C
ENST00000265849.11:c.2528G>C	ENSP00000265849.7:p.Cys843Ser
ENST00000382321.5:c.1325G>C	ENSP00000371758.4:p.Cys442Ser
ENST00000406569.8:c.1888G>C	ENSP00000514464.1:n.1888G>C
ENST00000441476.6:c.2210G>C	ENSP00000392843.2:p.Cys737Ser
ENST00000642292.1:c.2123G>C	ENSP00000495524.1:p.Cys708Ser
ENST00000642456.1:c.2123G>C	ENSP00000493814.1:p.Cys708Ser
ENST00000643595.1:c.*1927G>C	ENSP00000494497.1:n.*1927G>C
ENST00000644110.1:c.2210G>C	ENSP00000496392.1:p.Cys737Ser
ENST00000644110.2:c.*2122G>C	ENSP00000496392.2:n.*2122G>C
ENST00000699752.1:c.2372G>C	ENSP00000514561.1:p.Cys791Ser
ENST00000699753.1:c.*1949G>C	ENSP00000514562.1:n.*1949G>C
ENST00000699754.1:c.2330G>C	ENSP00000514563.1:p.Cys777Ser
ENST00000699755.1:c.*1927G>C	ENSP00000514564.1:n.*1927G>C
ENST00000699756.1:c.*2115G>C	ENSP00000514565.1:n.*2115G>C
ENST00000699757.1:c.*1785G>C	ENSP00000514566.1:n.*1785G>C
ENST00000699758.1:c.*1785G>C	ENSP00000514567.1:n.*1785G>C
ENST00000699759.1:n.3382G>C
ENST00000699760.1:c.2210G>C	ENSP00000514568.1:p.Cys737Ser
ENST00000699761.1:c.2123G>C	ENSP00000514569.1:p.Cys708Ser
ENST00000699762.1:c.1955G>C	ENSP00000514570.1:p.Cys652Ser
ENST00000699763.1:c.*1618G>C	ENSP00000514571.1:n.*1618G>C
ENST00000699764.1:c.*846G>C	ENSP00000514572.1:n.*846G>C
ENST00000699765.1:c.*1523G>C	ENSP00000514573.1:n.*1523G>C
ENST00000699766.1:c.2561G>C	ENSP00000514574.1:p.Cys854Ser
ENST00000699767.1:c.*169G>C	ENSP00000514575.1:n.*169G>C
ENST00000699768.1:c.2384G>C	ENSP00000514576.1:p.Cys795Ser
ENST00000699811.1:c.2123G>C	ENSP00000514614.1:p.Cys708Ser
ENST00000699813.1:n.2641G>C
ENST00000699814.1:c.2151G>C
ENST00000699814.2:c.*1924G>C	ENSP00000514615.2:n.*1924G>C
ENST00000699815.1:c.*2059G>C	ENSP00000514616.1:n.*2059G>C
ENST00000699816.1:c.*1418G>C	ENSP00000514617.1:n.*1418G>C
ENST00000699817.1:c.*2122G>C	ENSP00000514618.1:n.*2122G>C
ENST00000699818.1:c.2123G>C	ENSP00000514619.1:p.Cys708Ser
ENST00000699819.1:c.*1685G>C	ENSP00000514620.1:n.*1685G>C
ENST00000699820.1:c.*466G>C	ENSP00000514621.1:n.*466G>C
ENST00000699821.1:c.2156G>C	ENSP00000514622.1:p.Cys719Ser
ENST00000699822.1:c.*1980G>C	ENSP00000514623.1:n.*1980G>C
ENST00000699823.1:c.2123G>C	ENSP00000514624.1:p.Cys708Ser
ENST00000699824.1:c.*2031G>C	ENSP00000514625.1:n.*2031G>C
ENST00000699825.1:c.1967G>C	ENSP00000514626.1:p.Cys656Ser
ENST00000699826.1:c.*1927G>C	ENSP00000514627.1:n.*1927G>C
ENST00000699827.1:c.2360G>C	ENSP00000514628.1:p.Cys787Ser
ENST00000699828.1:c.*1618G>C	ENSP00000514629.1:n.*1618G>C
ENST00000699833.1:n.4300G>C
ENST00000699837.1:c.2123G>C	ENSP00000514635.1:p.Cys708Ser
ENST00000699838.1:c.*2428G>C	ENSP00000514636.1:n.*2428G>C
ENST00000699839.1:c.2714G>C	ENSP00000514637.1:p.Cys905Ser
ENST00000699840.2:c.2525G>C	ENSP00000514638.2:p.Cys842Ser
ENST00000699916.1:c.*1785G>C	ENSP00000514684.1:n.*1785G>C
ENST00000699917.1:c.*1977G>C	ENSP00000514685.1:n.*1977G>C
ENST00000699918.1:c.*2029G>C	ENSP00000514686.1:n.*2029G>C
ENST00000699919.1:c.*2115G>C	ENSP00000514687.1:n.*2115G>C
ENST00000699920.1:c.*2164G>C	ENSP00000514688.1:n.*2164G>C
ENST00000699928.1:c.*466G>C	ENSP00000514693.1:n.*466G>C
ENST00000699930.2:c.2420G>C	ENSP00000514695.2:p.Cys807Ser
ENST00000699951.1:c.*1581G>C	ENSP00000514706.1:n.*1581G>C
ENST00000699952.1:c.*82G>C	ENSP00000514707.1:n.*82G>C
XM_006715742.2:c.2522G>C	XP_006715805.1:p.Cys841Ser
XM_006715744.2:c.1595G>C	XP_006715807.1:p.Cys532Ser
XM_006715744.4:c.1595G>C	XP_006715807.1:p.Cys532Ser
XM_011515427.1:c.2573G>C	XP_011513729.1:p.Cys858Ser
XM_011515428.1:c.2417G>C	XP_011513730.1:p.Cys806Ser
XM_011515429.1:c.2210G>C	XP_011513731.1:p.Cys737Ser
XM_011515430.1:c.2210G>C	XP_011513732.1:p.Cys737Ser
XM_017012342.2:c.1595G>C	XP_016867831.1:p.Cys532Ser
XM_024446800.1:c.1967G>C	XP_024302568.1:p.Cys656Ser