Canonical Allele Identifier: CA1685217480
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982897G= , CM000669.2:g.5982897G= GRCh38
NC_000007.13:g.6022528G= , CM000669.1:g.6022528G= GRCh37
NC_000007.12:g.5989054G= NCBI36
NG_008466.1:g.31210C= , LRG_161:g.31210C=

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1497C= ENSP00000514615.2:n.*1497C=
ENST00000699840.2:c.2098C= ENSP00000514638.2:p.His700=
ENST00000699930.2:c.1993C= ENSP00000514695.2:p.His665=
ENST00000406569.8:c.1678+4190C= ENSP00000514464.1:n.1678+4190C=
ENST00000644110.2:c.*1695C= ENSP00000496392.2:n.*1695C=
ENST00000699752.1:c.1945C= ENSP00000514561.1:p.His649=
ENST00000699753.1:c.*1522C= ENSP00000514562.1:n.*1522C=
ENST00000699754.1:c.1903C= ENSP00000514563.1:p.His635=
ENST00000699755.1:c.*1500C= ENSP00000514564.1:n.*1500C=
ENST00000699756.1:c.*1688C= ENSP00000514565.1:n.*1688C=
ENST00000699757.1:c.*1358C= ENSP00000514566.1:n.*1358C=
ENST00000699758.1:c.*1358C= ENSP00000514567.1:n.*1358C=
ENST00000699759.1:n.2955C=
ENST00000699760.1:c.1783C= ENSP00000514568.1:p.His595=
ENST00000699761.1:c.1696C= ENSP00000514569.1:p.His566=
ENST00000699762.1:c.1528C= ENSP00000514570.1:p.His510=
ENST00000699763.1:c.*1191C= ENSP00000514571.1:n.*1191C=
ENST00000699764.1:c.*419C= ENSP00000514572.1:n.*419C=
ENST00000699765.1:c.*1197C= ENSP00000514573.1:n.*1197C=
ENST00000699766.1:c.2101C= ENSP00000514574.1:p.His701=
ENST00000699767.1:c.2101C= ENSP00000514575.1:p.His701=
ENST00000699768.1:c.2101C= ENSP00000514576.1:p.His701=
ENST00000699811.1:c.1696C= ENSP00000514614.1:p.His566=
ENST00000699813.1:n.2214C=
ENST00000699814.1:c.1724C=
ENST00000699815.1:c.*1632C= ENSP00000514616.1:n.*1632C=
ENST00000699816.1:c.*991C= ENSP00000514617.1:n.*991C=
ENST00000699817.1:c.*1695C= ENSP00000514618.1:n.*1695C=
ENST00000699818.1:c.1696C= ENSP00000514619.1:p.His566=
ENST00000699819.1:c.*1258C= ENSP00000514620.1:n.*1258C=
ENST00000699820.1:c.*39C= ENSP00000514621.1:n.*39C=
ENST00000699821.1:c.1696C= ENSP00000514622.1:p.His566=
ENST00000699822.1:c.*1553C= ENSP00000514623.1:n.*1553C=
ENST00000699823.1:c.1696C= ENSP00000514624.1:p.His566=
ENST00000699824.1:c.*1604C= ENSP00000514625.1:n.*1604C=
ENST00000699825.1:c.1540C= ENSP00000514626.1:p.His514=
ENST00000699826.1:c.*1500C= ENSP00000514627.1:n.*1500C=
ENST00000699827.1:c.1933C= ENSP00000514628.1:p.His645=
ENST00000699828.1:c.*1191C= ENSP00000514629.1:n.*1191C=
ENST00000699833.1:n.3873C=
ENST00000699837.1:c.1696C= ENSP00000514635.1:p.His566=
ENST00000699838.1:c.*2001C= ENSP00000514636.1:n.*2001C=
ENST00000699839.1:c.2287C= ENSP00000514637.1:p.His763=
ENST00000699916.1:c.*1358C= ENSP00000514684.1:n.*1358C=
ENST00000699917.1:c.*1550C= ENSP00000514685.1:n.*1550C=
ENST00000699918.1:c.*1602C= ENSP00000514686.1:n.*1602C=
ENST00000699919.1:c.*1688C= ENSP00000514687.1:n.*1688C=
ENST00000699920.1:c.*1737C= ENSP00000514688.1:n.*1737C=
ENST00000699928.1:c.*39C= ENSP00000514693.1:n.*39C=
ENST00000699951.1:c.*1197C= ENSP00000514706.1:n.*1197C=
ENST00000699952.1:c.804-9355C= ENSP00000514707.1:n.804-9355C=
ENST00000265849.12:c.2101C= MANE Select ENSP00000265849.7:p.His701=
ENST00000642292.1:c.1696C= ENSP00000495524.1:p.His566=
ENST00000642456.1:c.1696C= ENSP00000493814.1:p.His566=
ENST00000643595.1:c.*1500C= ENSP00000494497.1:n.*1500C=
ENST00000644110.1:c.1783C= ENSP00000496392.1:p.His595=
ENST00000265849.11:c.2101C= ENSP00000265849.7:p.His701=
ENST00000382321.5:c.898C= ENSP00000371758.4:p.His300=
ENST00000406569.7:n.1678+4190C=
ENST00000441476.6:c.1783C= ENSP00000392843.2:p.His595=
ENST00000469652.1:n.71C=
NM_000535.5:c.2101C= , LRG_161t1:c.2101C= NP_000526.1:p.His701=
NR_003085.2:n.2183C=
XM_006715742.2:c.2095C= XP_006715805.1:p.His699=
XM_006715744.2:c.1168C= XP_006715807.1:p.His390=
XM_011515427.1:c.2146C= XP_011513729.1:p.His716=
XM_011515428.1:c.1990C= XP_011513730.1:p.His664=
XM_011515429.1:c.1783C= XP_011513731.1:p.His595=
XM_011515430.1:c.1783C= XP_011513732.1:p.His595=
NM_000535.6:c.2101C= NP_000526.2:p.His701=
NM_001322003.1:c.1696C= NP_001308932.1:p.His566=
NM_001322004.1:c.1696C= NP_001308933.1:p.His566=
NM_001322005.1:c.1696C= NP_001308934.1:p.His566=
NM_001322006.1:c.1945C= NP_001308935.1:p.His649=
NM_001322007.1:c.1783C= NP_001308936.1:p.His595=
NM_001322008.1:c.1783C= NP_001308937.1:p.His595=
NM_001322009.1:c.1696C= NP_001308938.1:p.His566=
NM_001322010.1:c.1540C= NP_001308939.1:p.His514=
NM_001322011.1:c.1168C= NP_001308940.1:p.His390=
NM_001322012.1:c.1168C= NP_001308941.1:p.His390=
NM_001322013.1:c.1528C= NP_001308942.1:p.His510=
NM_001322014.1:c.2101C= NP_001308943.1:p.His701=
NM_001322015.1:c.1792C= NP_001308944.1:p.His598=
NR_136154.1:n.2188C=
XM_006715744.4:c.1168C= XP_006715807.1:p.His390=
XM_017012342.2:c.1168C= XP_016867831.1:p.His390=
XM_024446800.1:c.1540C= XP_024302568.1:p.His514=
NM_000535.7:c.2101C= MANE Select NP_000526.2:p.His701=
NM_001322003.2:c.1696C= NP_001308932.1:p.His566=
NM_001322004.2:c.1696C= NP_001308933.1:p.His566=
NM_001322005.2:c.1696C= NP_001308934.1:p.His566=
NM_001322006.2:c.1945C= NP_001308935.1:p.His649=
NM_001322008.2:c.1783C= NP_001308937.1:p.His595=
NM_001322009.2:c.1696C= NP_001308938.1:p.His566=
NM_001322010.2:c.1540C= NP_001308939.1:p.His514=
NM_001322011.2:c.1168C= NP_001308940.1:p.His390=
NM_001322012.2:c.1168C= NP_001308941.1:p.His390=
NM_001322013.2:c.1528C= NP_001308942.1:p.His510=
NM_001322014.2:c.2101C= NP_001308943.1:p.His701=
NM_001322015.2:c.1792C= NP_001308944.1:p.His598=
NM_001322007.2:c.1783C= NP_001308936.1:p.His595=