Canonical Allele Identifier: CA366734762
Gene: PMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5973423G>C , CM000669.2:g.5973423G>C GRCh38
NC_000007.13:g.6013054G>C , CM000669.1:g.6013054G>C GRCh37
NC_000007.12:g.5979580G>C NCBI36
NG_008466.1:g.40684C>G , LRG_161:g.40684C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1961C>G ENSP00000514615.2:n.*1961C>G
ENST00000699840.2:c.2562C>G ENSP00000514638.2:p.Asn854Lys
ENST00000699930.2:c.2457C>G ENSP00000514695.2:p.Asn819Lys
ENST00000406569.8:c.1925C>G ENSP00000514464.1:n.1925C>G
ENST00000644110.2:c.*2159C>G ENSP00000496392.2:n.*2159C>G
ENST00000699752.1:c.2409C>G ENSP00000514561.1:p.Asn803Lys
ENST00000699753.1:c.*1986C>G ENSP00000514562.1:n.*1986C>G
ENST00000699754.1:c.2367C>G ENSP00000514563.1:p.Asn789Lys
ENST00000699755.1:c.*1964C>G ENSP00000514564.1:n.*1964C>G
ENST00000699756.1:c.*2152C>G ENSP00000514565.1:n.*2152C>G
ENST00000699757.1:c.*1822C>G ENSP00000514566.1:n.*1822C>G
ENST00000699758.1:c.*1822C>G ENSP00000514567.1:n.*1822C>G
ENST00000699759.1:n.3419C>G
ENST00000699760.1:c.2247C>G ENSP00000514568.1:p.Asn749Lys
ENST00000699761.1:c.2160C>G ENSP00000514569.1:p.Asn720Lys
ENST00000699762.1:c.1992C>G ENSP00000514570.1:p.Asn664Lys
ENST00000699763.1:c.*1655C>G ENSP00000514571.1:n.*1655C>G
ENST00000699764.1:c.*883C>G ENSP00000514572.1:n.*883C>G
ENST00000699765.1:c.*1560C>G ENSP00000514573.1:n.*1560C>G
ENST00000699766.1:c.2598C>G ENSP00000514574.1:p.Asn866Lys
ENST00000699767.1:c.*206C>G ENSP00000514575.1:n.*206C>G
ENST00000699768.1:c.2421C>G ENSP00000514576.1:p.Asn807Lys
ENST00000699811.1:c.2160C>G ENSP00000514614.1:p.Asn720Lys
ENST00000699813.1:n.2678C>G
ENST00000699814.1:c.2188C>G
ENST00000699815.1:c.*2096C>G ENSP00000514616.1:n.*2096C>G
ENST00000699816.1:c.*1455C>G ENSP00000514617.1:n.*1455C>G
ENST00000699817.1:c.*2159C>G ENSP00000514618.1:n.*2159C>G
ENST00000699818.1:c.2160C>G ENSP00000514619.1:p.Asn720Lys
ENST00000699819.1:c.*1722C>G ENSP00000514620.1:n.*1722C>G
ENST00000699820.1:c.*503C>G ENSP00000514621.1:n.*503C>G
ENST00000699821.1:c.2193C>G ENSP00000514622.1:p.Asn731Lys
ENST00000699822.1:c.*2017C>G ENSP00000514623.1:n.*2017C>G
ENST00000699823.1:c.2160C>G ENSP00000514624.1:p.Asn720Lys
ENST00000699824.1:c.*2068C>G ENSP00000514625.1:n.*2068C>G
ENST00000699825.1:c.2004C>G ENSP00000514626.1:p.Asn668Lys
ENST00000699826.1:c.*1964C>G ENSP00000514627.1:n.*1964C>G
ENST00000699827.1:c.2397C>G ENSP00000514628.1:p.Asn799Lys
ENST00000699828.1:c.*1655C>G ENSP00000514629.1:n.*1655C>G
ENST00000699833.1:n.4337C>G
ENST00000699837.1:c.2160C>G ENSP00000514635.1:p.Asn720Lys
ENST00000699838.1:c.*2465C>G ENSP00000514636.1:n.*2465C>G
ENST00000699839.1:c.2751C>G ENSP00000514637.1:p.Asn917Lys
ENST00000699916.1:c.*1822C>G ENSP00000514684.1:n.*1822C>G
ENST00000699917.1:c.*2014C>G ENSP00000514685.1:n.*2014C>G
ENST00000699918.1:c.*2066C>G ENSP00000514686.1:n.*2066C>G
ENST00000699919.1:c.*2152C>G ENSP00000514687.1:n.*2152C>G
ENST00000699920.1:c.*2201C>G ENSP00000514688.1:n.*2201C>G
ENST00000699928.1:c.*503C>G ENSP00000514693.1:n.*503C>G
ENST00000699951.1:c.*1618C>G ENSP00000514706.1:n.*1618C>G
ENST00000699952.1:c.*119C>G ENSP00000514707.1:n.*119C>G
ENST00000265849.12:c.2565C>G MANE Select ENSP00000265849.7:p.Asn855Lys
ENST00000642292.1:c.2160C>G ENSP00000495524.1:p.Asn720Lys
ENST00000642456.1:c.2160C>G ENSP00000493814.1:p.Asn720Lys
ENST00000643595.1:c.*1964C>G ENSP00000494497.1:n.*1964C>G
ENST00000644110.1:c.2247C>G ENSP00000496392.1:p.Asn749Lys
ENST00000265849.11:c.2565C>G ENSP00000265849.7:p.Asn855Lys
ENST00000382321.5:c.1362C>G ENSP00000371758.4:p.Asn454Lys
ENST00000441476.6:c.2247C>G ENSP00000392843.2:p.Asn749Lys
NM_000535.5:c.2565C>G , LRG_161t1:c.2565C>G NP_000526.1:p.Asn855Lys
NR_003085.2:n.2647C>G
XM_006715742.2:c.2559C>G XP_006715805.1:p.Asn853Lys
XM_006715744.2:c.1632C>G XP_006715807.1:p.Asn544Lys
XM_011515427.1:c.2610C>G XP_011513729.1:p.Asn870Lys
XM_011515428.1:c.2454C>G XP_011513730.1:p.Asn818Lys
XM_011515429.1:c.2247C>G XP_011513731.1:p.Asn749Lys
XM_011515430.1:c.2247C>G XP_011513732.1:p.Asn749Lys
NM_000535.6:c.2565C>G NP_000526.2:p.Asn855Lys
NM_001322003.1:c.2160C>G NP_001308932.1:p.Asn720Lys
NM_001322004.1:c.2160C>G NP_001308933.1:p.Asn720Lys
NM_001322005.1:c.2160C>G NP_001308934.1:p.Asn720Lys
NM_001322006.1:c.2409C>G NP_001308935.1:p.Asn803Lys
NM_001322007.1:c.2247C>G NP_001308936.1:p.Asn749Lys
NM_001322008.1:c.2247C>G NP_001308937.1:p.Asn749Lys
NM_001322009.1:c.2193C>G NP_001308938.1:p.Asn731Lys
NM_001322010.1:c.2004C>G NP_001308939.1:p.Asn668Lys
NM_001322011.1:c.1632C>G NP_001308940.1:p.Asn544Lys
NM_001322012.1:c.1632C>G NP_001308941.1:p.Asn544Lys
NM_001322013.1:c.1992C>G NP_001308942.1:p.Asn664Lys
NM_001322014.1:c.2598C>G NP_001308943.1:p.Asn866Lys
NM_001322015.1:c.2256C>G NP_001308944.1:p.Asn752Lys
NR_136154.1:n.2609C>G
XM_006715744.4:c.1632C>G XP_006715807.1:p.Asn544Lys
XM_017012342.2:c.1632C>G XP_016867831.1:p.Asn544Lys
XM_024446800.1:c.2004C>G XP_024302568.1:p.Asn668Lys
NM_000535.7:c.2565C>G MANE Select NP_000526.2:p.Asn855Lys
NM_001322003.2:c.2160C>G NP_001308932.1:p.Asn720Lys
NM_001322004.2:c.2160C>G NP_001308933.1:p.Asn720Lys
NM_001322005.2:c.2160C>G NP_001308934.1:p.Asn720Lys
NM_001322006.2:c.2409C>G NP_001308935.1:p.Asn803Lys
NM_001322008.2:c.2247C>G NP_001308937.1:p.Asn749Lys
NM_001322009.2:c.2193C>G NP_001308938.1:p.Asn731Lys
NM_001322010.2:c.2004C>G NP_001308939.1:p.Asn668Lys
NM_001322011.2:c.1632C>G NP_001308940.1:p.Asn544Lys
NM_001322012.2:c.1632C>G NP_001308941.1:p.Asn544Lys
NM_001322013.2:c.1992C>G NP_001308942.1:p.Asn664Lys
NM_001322014.2:c.2598C>G NP_001308943.1:p.Asn866Lys
NM_001322015.2:c.2256C>G NP_001308944.1:p.Asn752Lys
NM_001322007.2:c.2247C>G NP_001308936.1:p.Asn749Lys