Canonical Allele Identifier: CA366734845
Community Standard Title: NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
Gene: PMS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5973453A>C , CM000669.2:g.5973453A>C GRCh38
NC_000007.13:g.6013084A>C , CM000669.1:g.6013084A>C GRCh37
NC_000007.12:g.5979610A>C NCBI36
NG_008466.1:g.40654T>G , LRG_161:g.40654T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000535.7:c.2535T>G MANE Select NP_000526.2:p.His845Gln
ENST00000265849.12:c.2535T>G MANE Select ENSP00000265849.7:p.His845Gln
NM_000535.5:c.2535T>G , LRG_161t1:c.2535T>G NP_000526.1:p.His845Gln
NM_000535.6:c.2535T>G NP_000526.2:p.His845Gln
NM_001322003.1:c.2130T>G NP_001308932.1:p.His710Gln
NM_001322003.2:c.2130T>G NP_001308932.1:p.His710Gln
NM_001322004.1:c.2130T>G NP_001308933.1:p.His710Gln
NM_001322004.2:c.2130T>G NP_001308933.1:p.His710Gln
NM_001322005.1:c.2130T>G NP_001308934.1:p.His710Gln
NM_001322005.2:c.2130T>G NP_001308934.1:p.His710Gln
NM_001322006.1:c.2379T>G NP_001308935.1:p.His793Gln
NM_001322006.2:c.2379T>G NP_001308935.1:p.His793Gln
NM_001322007.1:c.2217T>G NP_001308936.1:p.His739Gln
NM_001322007.2:c.2217T>G NP_001308936.1:p.His739Gln
NM_001322008.1:c.2217T>G NP_001308937.1:p.His739Gln
NM_001322008.2:c.2217T>G NP_001308937.1:p.His739Gln
NM_001322009.1:c.2163T>G NP_001308938.1:p.His721Gln
NM_001322009.2:c.2163T>G NP_001308938.1:p.His721Gln
NM_001322010.1:c.1974T>G NP_001308939.1:p.His658Gln
NM_001322010.2:c.1974T>G NP_001308939.1:p.His658Gln
NM_001322011.1:c.1602T>G NP_001308940.1:p.His534Gln
NM_001322011.2:c.1602T>G NP_001308940.1:p.His534Gln
NM_001322012.1:c.1602T>G NP_001308941.1:p.His534Gln
NM_001322012.2:c.1602T>G NP_001308941.1:p.His534Gln
NM_001322013.1:c.1962T>G NP_001308942.1:p.His654Gln
NM_001322013.2:c.1962T>G NP_001308942.1:p.His654Gln
NM_001322014.1:c.2568T>G NP_001308943.1:p.His856Gln
NM_001322014.2:c.2568T>G NP_001308943.1:p.His856Gln
NM_001322015.1:c.2226T>G NP_001308944.1:p.His742Gln
NM_001322015.2:c.2226T>G NP_001308944.1:p.His742Gln
NR_003085.2:n.2617T>G
NR_136154.1:n.2579T>G
ENST00000265849.11:c.2535T>G ENSP00000265849.7:p.His845Gln
ENST00000382321.5:c.1332T>G ENSP00000371758.4:p.His444Gln
ENST00000406569.8:c.1895T>G ENSP00000514464.1:n.1895T>G
ENST00000441476.6:c.2217T>G ENSP00000392843.2:p.His739Gln
ENST00000642292.1:c.2130T>G ENSP00000495524.1:p.His710Gln
ENST00000642456.1:c.2130T>G ENSP00000493814.1:p.His710Gln
ENST00000643595.1:c.*1934T>G ENSP00000494497.1:n.*1934T>G
ENST00000644110.1:c.2217T>G ENSP00000496392.1:p.His739Gln
ENST00000644110.2:c.*2129T>G ENSP00000496392.2:n.*2129T>G
ENST00000699752.1:c.2379T>G ENSP00000514561.1:p.His793Gln
ENST00000699753.1:c.*1956T>G ENSP00000514562.1:n.*1956T>G
ENST00000699754.1:c.2337T>G ENSP00000514563.1:p.His779Gln
ENST00000699755.1:c.*1934T>G ENSP00000514564.1:n.*1934T>G
ENST00000699756.1:c.*2122T>G ENSP00000514565.1:n.*2122T>G
ENST00000699757.1:c.*1792T>G ENSP00000514566.1:n.*1792T>G
ENST00000699758.1:c.*1792T>G ENSP00000514567.1:n.*1792T>G
ENST00000699759.1:n.3389T>G
ENST00000699760.1:c.2217T>G ENSP00000514568.1:p.His739Gln
ENST00000699761.1:c.2130T>G ENSP00000514569.1:p.His710Gln
ENST00000699762.1:c.1962T>G ENSP00000514570.1:p.His654Gln
ENST00000699763.1:c.*1625T>G ENSP00000514571.1:n.*1625T>G
ENST00000699764.1:c.*853T>G ENSP00000514572.1:n.*853T>G
ENST00000699765.1:c.*1530T>G ENSP00000514573.1:n.*1530T>G
ENST00000699766.1:c.2568T>G ENSP00000514574.1:p.His856Gln
ENST00000699767.1:c.*176T>G ENSP00000514575.1:n.*176T>G
ENST00000699768.1:c.2391T>G ENSP00000514576.1:p.His797Gln
ENST00000699811.1:c.2130T>G ENSP00000514614.1:p.His710Gln
ENST00000699813.1:n.2648T>G
ENST00000699814.1:c.2158T>G
ENST00000699814.2:c.*1931T>G ENSP00000514615.2:n.*1931T>G
ENST00000699815.1:c.*2066T>G ENSP00000514616.1:n.*2066T>G
ENST00000699816.1:c.*1425T>G ENSP00000514617.1:n.*1425T>G
ENST00000699817.1:c.*2129T>G ENSP00000514618.1:n.*2129T>G
ENST00000699818.1:c.2130T>G ENSP00000514619.1:p.His710Gln
ENST00000699819.1:c.*1692T>G ENSP00000514620.1:n.*1692T>G
ENST00000699820.1:c.*473T>G ENSP00000514621.1:n.*473T>G
ENST00000699821.1:c.2163T>G ENSP00000514622.1:p.His721Gln
ENST00000699822.1:c.*1987T>G ENSP00000514623.1:n.*1987T>G
ENST00000699823.1:c.2130T>G ENSP00000514624.1:p.His710Gln
ENST00000699824.1:c.*2038T>G ENSP00000514625.1:n.*2038T>G
ENST00000699825.1:c.1974T>G ENSP00000514626.1:p.His658Gln
ENST00000699826.1:c.*1934T>G ENSP00000514627.1:n.*1934T>G
ENST00000699827.1:c.2367T>G ENSP00000514628.1:p.His789Gln
ENST00000699828.1:c.*1625T>G ENSP00000514629.1:n.*1625T>G
ENST00000699833.1:n.4307T>G
ENST00000699837.1:c.2130T>G ENSP00000514635.1:p.His710Gln
ENST00000699838.1:c.*2435T>G ENSP00000514636.1:n.*2435T>G
ENST00000699839.1:c.2721T>G ENSP00000514637.1:p.His907Gln
ENST00000699840.2:c.2532T>G ENSP00000514638.2:p.His844Gln
ENST00000699916.1:c.*1792T>G ENSP00000514684.1:n.*1792T>G
ENST00000699917.1:c.*1984T>G ENSP00000514685.1:n.*1984T>G
ENST00000699918.1:c.*2036T>G ENSP00000514686.1:n.*2036T>G
ENST00000699919.1:c.*2122T>G ENSP00000514687.1:n.*2122T>G
ENST00000699920.1:c.*2171T>G ENSP00000514688.1:n.*2171T>G
ENST00000699928.1:c.*473T>G ENSP00000514693.1:n.*473T>G
ENST00000699930.2:c.2427T>G ENSP00000514695.2:p.His809Gln
ENST00000699951.1:c.*1588T>G ENSP00000514706.1:n.*1588T>G
ENST00000699952.1:c.*89T>G ENSP00000514707.1:n.*89T>G
XM_006715742.2:c.2529T>G XP_006715805.1:p.His843Gln
XM_006715744.2:c.1602T>G XP_006715807.1:p.His534Gln
XM_006715744.4:c.1602T>G XP_006715807.1:p.His534Gln
XM_011515427.1:c.2580T>G XP_011513729.1:p.His860Gln
XM_011515428.1:c.2424T>G XP_011513730.1:p.His808Gln
XM_011515429.1:c.2217T>G XP_011513731.1:p.His739Gln
XM_011515430.1:c.2217T>G XP_011513732.1:p.His739Gln
XM_017012342.2:c.1602T>G XP_016867831.1:p.His534Gln
XM_024446800.1:c.1974T>G XP_024302568.1:p.His658Gln
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