Canonical Allele Identifier: CA009709
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91303
dbSNP Id: rs587779328
gnomAD v2: 7-6026933-G-A
gnomAD v3: 7-5987302-G-A
gnomAD v4: 7-5987302-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987302G>A , CM000669.2:g.5987302G>A GRCh38
NC_000007.13:g.6026933G>A , CM000669.1:g.6026933G>A GRCh37
NC_000007.12:g.5993459G>A NCBI36
NG_008466.1:g.26805C>T , LRG_161:g.26805C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*859C>T ENSP00000514615.2:n.*859C>T
ENST00000699840.2:c.1460C>T ENSP00000514638.2:p.Ala487Val
ENST00000699930.2:c.1355C>T ENSP00000514695.2:p.Ala452Val
ENST00000406569.8:c.1463C>T ENSP00000514464.1:p.Ala488Val
ENST00000644110.2:c.*1057C>T ENSP00000496392.2:n.*1057C>T
ENST00000699752.1:c.1307C>T ENSP00000514561.1:p.Ala436Val
ENST00000699753.1:c.*884C>T ENSP00000514562.1:n.*884C>T
ENST00000699754.1:c.1265C>T ENSP00000514563.1:p.Ala422Val
ENST00000699755.1:c.*862C>T ENSP00000514564.1:n.*862C>T
ENST00000699756.1:c.*1050C>T ENSP00000514565.1:n.*1050C>T
ENST00000699757.1:c.*720C>T ENSP00000514566.1:n.*720C>T
ENST00000699758.1:c.*720C>T ENSP00000514567.1:n.*720C>T
ENST00000699759.1:n.2317C>T
ENST00000699760.1:c.1145C>T ENSP00000514568.1:p.Ala382Val
ENST00000699761.1:c.1058C>T ENSP00000514569.1:p.Ala353Val
ENST00000699762.1:c.890C>T ENSP00000514570.1:p.Ala297Val
ENST00000699763.1:c.*553C>T ENSP00000514571.1:n.*553C>T
ENST00000699764.1:c.1463C>T ENSP00000514572.1:p.Ala488Val
ENST00000699765.1:c.*559C>T ENSP00000514573.1:n.*559C>T
ENST00000699766.1:c.1463C>T ENSP00000514574.1:p.Ala488Val
ENST00000699767.1:c.1463C>T ENSP00000514575.1:p.Ala488Val
ENST00000699768.1:c.1463C>T ENSP00000514576.1:p.Ala488Val
ENST00000699811.1:c.1058C>T ENSP00000514614.1:p.Ala353Val
ENST00000699813.1:n.1576C>T
ENST00000699814.1:c.1086C>T
ENST00000699815.1:c.*994C>T ENSP00000514616.1:n.*994C>T
ENST00000699816.1:c.*353C>T ENSP00000514617.1:n.*353C>T
ENST00000699817.1:c.*1057C>T ENSP00000514618.1:n.*1057C>T
ENST00000699818.1:c.1058C>T ENSP00000514619.1:p.Ala353Val
ENST00000699819.1:c.*620C>T ENSP00000514620.1:n.*620C>T
ENST00000699820.1:c.1144+2498C>T ENSP00000514621.1:n.1144+2498C>T
ENST00000699821.1:c.1058C>T ENSP00000514622.1:p.Ala353Val
ENST00000699822.1:c.*915C>T ENSP00000514623.1:n.*915C>T
ENST00000699823.1:c.1058C>T ENSP00000514624.1:p.Ala353Val
ENST00000699824.1:c.*966C>T ENSP00000514625.1:n.*966C>T
ENST00000699825.1:c.902C>T ENSP00000514626.1:p.Ala301Val
ENST00000699826.1:c.*862C>T ENSP00000514627.1:n.*862C>T
ENST00000699827.1:c.1295C>T ENSP00000514628.1:p.Ala432Val
ENST00000699828.1:c.*553C>T ENSP00000514629.1:n.*553C>T
ENST00000699833.1:n.3235C>T
ENST00000699837.1:c.1058C>T ENSP00000514635.1:p.Ala353Val
ENST00000699838.1:c.*1363C>T ENSP00000514636.1:n.*1363C>T
ENST00000699839.1:c.1649C>T ENSP00000514637.1:p.Ala550Val
ENST00000699916.1:c.*720C>T ENSP00000514684.1:n.*720C>T
ENST00000699917.1:c.*912C>T ENSP00000514685.1:n.*912C>T
ENST00000699918.1:c.*964C>T ENSP00000514686.1:n.*964C>T
ENST00000699919.1:c.*1050C>T ENSP00000514687.1:n.*1050C>T
ENST00000699920.1:c.*1099C>T ENSP00000514688.1:n.*1099C>T
ENST00000699928.1:c.989-4311C>T ENSP00000514693.1:n.989-4311C>T
ENST00000699929.1:c.*764C>T ENSP00000514694.1:n.*764C>T
ENST00000699930.1:c.1355C>T ENSP00000514695.1:p.Ala452Val
ENST00000699931.1:n.2891C>T
ENST00000699951.1:c.*559C>T ENSP00000514706.1:n.*559C>T
ENST00000699952.1:c.803+10024C>T ENSP00000514707.1:n.803+10024C>T
ENST00000699953.1:c.*570C>T ENSP00000514708.1:n.*570C>T
ENST00000699954.1:c.*764C>T ENSP00000514709.1:n.*764C>T
ENST00000265849.12:c.1463C>T MANE Select ENSP00000265849.7:p.Ala488Val
ENST00000642292.1:c.1058C>T ENSP00000495524.1:p.Ala353Val
ENST00000642456.1:c.1058C>T ENSP00000493814.1:p.Ala353Val
ENST00000643595.1:c.*862C>T ENSP00000494497.1:n.*862C>T
ENST00000644110.1:c.1145C>T ENSP00000496392.1:p.Ala382Val
ENST00000265849.11:c.1463C>T ENSP00000265849.7:p.Ala488Val
ENST00000382321.5:c.804-4311C>T ENSP00000371758.4:n.804-4311C>T
ENST00000406569.7:n.1463C>T
ENST00000441476.6:c.1145C>T ENSP00000392843.2:p.Ala382Val
ENST00000469652.1:n.63-4397C>T
NM_000535.5:c.1463C>T , LRG_161t1:c.1463C>T NP_000526.1:p.Ala488Val
NR_003085.2:n.1545C>T
XM_006715742.2:c.1457C>T XP_006715805.1:p.Ala486Val
XM_006715744.2:c.530C>T XP_006715807.1:p.Ala177Val
XM_011515427.1:c.1508C>T XP_011513729.1:p.Ala503Val
XM_011515428.1:c.1352C>T XP_011513730.1:p.Ala451Val
XM_011515429.1:c.1145C>T XP_011513731.1:p.Ala382Val
XM_011515430.1:c.1145C>T XP_011513732.1:p.Ala382Val
NM_000535.6:c.1463C>T NP_000526.2:p.Ala488Val
NM_001322003.1:c.1058C>T NP_001308932.1:p.Ala353Val
NM_001322004.1:c.1058C>T NP_001308933.1:p.Ala353Val
NM_001322005.1:c.1058C>T NP_001308934.1:p.Ala353Val
NM_001322006.1:c.1307C>T NP_001308935.1:p.Ala436Val
NM_001322007.1:c.1145C>T NP_001308936.1:p.Ala382Val
NM_001322008.1:c.1145C>T NP_001308937.1:p.Ala382Val
NM_001322009.1:c.1058C>T NP_001308938.1:p.Ala353Val
NM_001322010.1:c.902C>T NP_001308939.1:p.Ala301Val
NM_001322011.1:c.530C>T NP_001308940.1:p.Ala177Val
NM_001322012.1:c.530C>T NP_001308941.1:p.Ala177Val
NM_001322013.1:c.890C>T NP_001308942.1:p.Ala297Val
NM_001322014.1:c.1463C>T NP_001308943.1:p.Ala488Val
NM_001322015.1:c.1154C>T NP_001308944.1:p.Ala385Val
NR_136154.1:n.1550C>T
XM_006715744.4:c.530C>T XP_006715807.1:p.Ala177Val
XM_017012342.2:c.530C>T XP_016867831.1:p.Ala177Val
XM_024446800.1:c.902C>T XP_024302568.1:p.Ala301Val
NM_000535.7:c.1463C>T MANE Select NP_000526.2:p.Ala488Val
NM_001322003.2:c.1058C>T NP_001308932.1:p.Ala353Val
NM_001322004.2:c.1058C>T NP_001308933.1:p.Ala353Val
NM_001322005.2:c.1058C>T NP_001308934.1:p.Ala353Val
NM_001322006.2:c.1307C>T NP_001308935.1:p.Ala436Val
NM_001322008.2:c.1145C>T NP_001308937.1:p.Ala382Val
NM_001322009.2:c.1058C>T NP_001308938.1:p.Ala353Val
NM_001322010.2:c.902C>T NP_001308939.1:p.Ala301Val
NM_001322011.2:c.530C>T NP_001308940.1:p.Ala177Val
NM_001322012.2:c.530C>T NP_001308941.1:p.Ala177Val
NM_001322013.2:c.890C>T NP_001308942.1:p.Ala297Val
NM_001322014.2:c.1463C>T NP_001308943.1:p.Ala488Val
NM_001322015.2:c.1154C>T NP_001308944.1:p.Ala385Val
NM_001322007.2:c.1145C>T NP_001308936.1:p.Ala382Val