Canonical Allele Identifier: CA011125
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185928
dbSNP Id: rs200824831
gnomAD v2: 7-6018255-A-T
gnomAD v4: 7-5978624-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5978624A>T , CM000669.2:g.5978624A>T GRCh38
NC_000007.13:g.6018255A>T , CM000669.1:g.6018255A>T GRCh37
NC_000007.12:g.5984781A>T NCBI36
NG_008466.1:g.35483T>A , LRG_161:g.35483T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1643T>A ENSP00000514615.2:n.*1643T>A
ENST00000699840.2:c.2244T>A ENSP00000514638.2:p.Asn748Lys
ENST00000699930.2:c.2139T>A ENSP00000514695.2:p.Asn713Lys
ENST00000406569.8:c.1679-910T>A ENSP00000514464.1:n.1679-910T>A
ENST00000644110.2:c.*1841T>A ENSP00000496392.2:n.*1841T>A
ENST00000699752.1:c.2091T>A ENSP00000514561.1:p.Asn697Lys
ENST00000699753.1:c.*1668T>A ENSP00000514562.1:n.*1668T>A
ENST00000699754.1:c.2049T>A ENSP00000514563.1:p.Asn683Lys
ENST00000699755.1:c.*1646T>A ENSP00000514564.1:n.*1646T>A
ENST00000699756.1:c.*1834T>A ENSP00000514565.1:n.*1834T>A
ENST00000699757.1:c.*1504T>A ENSP00000514566.1:n.*1504T>A
ENST00000699758.1:c.*1504T>A ENSP00000514567.1:n.*1504T>A
ENST00000699759.1:n.3101T>A
ENST00000699760.1:c.1929T>A ENSP00000514568.1:p.Asn643Lys
ENST00000699761.1:c.1842T>A ENSP00000514569.1:p.Asn614Lys
ENST00000699762.1:c.1674T>A ENSP00000514570.1:p.Asn558Lys
ENST00000699763.1:c.*1337T>A ENSP00000514571.1:n.*1337T>A
ENST00000699764.1:c.*565T>A ENSP00000514572.1:n.*565T>A
ENST00000699765.1:c.*1271-867T>A ENSP00000514573.1:n.*1271-867T>A
ENST00000699766.1:c.2247T>A ENSP00000514574.1:p.Asn749Lys
ENST00000699767.1:c.2247T>A ENSP00000514575.1:p.Asn749Lys
ENST00000699768.1:c.2175-910T>A ENSP00000514576.1:n.2175-910T>A
ENST00000699811.1:c.1842T>A ENSP00000514614.1:p.Asn614Lys
ENST00000699813.1:n.2360T>A
ENST00000699814.1:c.1870T>A
ENST00000699815.1:c.*1778T>A ENSP00000514616.1:n.*1778T>A
ENST00000699816.1:c.*1137T>A ENSP00000514617.1:n.*1137T>A
ENST00000699817.1:c.*1841T>A ENSP00000514618.1:n.*1841T>A
ENST00000699818.1:c.1842T>A ENSP00000514619.1:p.Asn614Lys
ENST00000699819.1:c.*1404T>A ENSP00000514620.1:n.*1404T>A
ENST00000699820.1:c.*185T>A ENSP00000514621.1:n.*185T>A
ENST00000699821.1:c.1842T>A ENSP00000514622.1:p.Asn614Lys
ENST00000699822.1:c.*1699T>A ENSP00000514623.1:n.*1699T>A
ENST00000699823.1:c.1842T>A ENSP00000514624.1:p.Asn614Lys
ENST00000699824.1:c.*1750T>A ENSP00000514625.1:n.*1750T>A
ENST00000699825.1:c.1686T>A ENSP00000514626.1:p.Asn562Lys
ENST00000699826.1:c.*1646T>A ENSP00000514627.1:n.*1646T>A
ENST00000699827.1:c.2079T>A ENSP00000514628.1:p.Asn693Lys
ENST00000699828.1:c.*1337T>A ENSP00000514629.1:n.*1337T>A
ENST00000699833.1:n.4019T>A
ENST00000699837.1:c.1842T>A ENSP00000514635.1:p.Asn614Lys
ENST00000699838.1:c.*2147T>A ENSP00000514636.1:n.*2147T>A
ENST00000699839.1:c.2433T>A ENSP00000514637.1:p.Asn811Lys
ENST00000699916.1:c.*1504T>A ENSP00000514684.1:n.*1504T>A
ENST00000699917.1:c.*1696T>A ENSP00000514685.1:n.*1696T>A
ENST00000699918.1:c.*1748T>A ENSP00000514686.1:n.*1748T>A
ENST00000699919.1:c.*1834T>A ENSP00000514687.1:n.*1834T>A
ENST00000699920.1:c.*1883T>A ENSP00000514688.1:n.*1883T>A
ENST00000699928.1:c.*185T>A ENSP00000514693.1:n.*185T>A
ENST00000699951.1:c.*1343T>A ENSP00000514706.1:n.*1343T>A
ENST00000699952.1:c.804-5082T>A ENSP00000514707.1:n.804-5082T>A
ENST00000265849.12:c.2247T>A MANE Select ENSP00000265849.7:p.Asn749Lys
ENST00000642292.1:c.1842T>A ENSP00000495524.1:p.Asn614Lys
ENST00000642456.1:c.1842T>A ENSP00000493814.1:p.Asn614Lys
ENST00000643595.1:c.*1646T>A ENSP00000494497.1:n.*1646T>A
ENST00000644110.1:c.1929T>A ENSP00000496392.1:p.Asn643Lys
ENST00000265849.11:c.2247T>A ENSP00000265849.7:p.Asn749Lys
ENST00000382321.5:c.1044T>A ENSP00000371758.4:p.Asn348Lys
ENST00000406569.7:n.1679-910T>A
ENST00000441476.6:c.1929T>A ENSP00000392843.2:p.Asn643Lys
NM_000535.5:c.2247T>A , LRG_161t1:c.2247T>A NP_000526.1:p.Asn749Lys
NR_003085.2:n.2329T>A
XM_006715742.2:c.2241T>A XP_006715805.1:p.Asn747Lys
XM_006715744.2:c.1314T>A XP_006715807.1:p.Asn438Lys
XM_011515427.1:c.2292T>A XP_011513729.1:p.Asn764Lys
XM_011515428.1:c.2136T>A XP_011513730.1:p.Asn712Lys
XM_011515429.1:c.1929T>A XP_011513731.1:p.Asn643Lys
XM_011515430.1:c.1929T>A XP_011513732.1:p.Asn643Lys
NM_000535.6:c.2247T>A NP_000526.2:p.Asn749Lys
NM_001322003.1:c.1842T>A NP_001308932.1:p.Asn614Lys
NM_001322004.1:c.1842T>A NP_001308933.1:p.Asn614Lys
NM_001322005.1:c.1842T>A NP_001308934.1:p.Asn614Lys
NM_001322006.1:c.2091T>A NP_001308935.1:p.Asn697Lys
NM_001322007.1:c.1929T>A NP_001308936.1:p.Asn643Lys
NM_001322008.1:c.1929T>A NP_001308937.1:p.Asn643Lys
NM_001322009.1:c.1842T>A NP_001308938.1:p.Asn614Lys
NM_001322010.1:c.1686T>A NP_001308939.1:p.Asn562Lys
NM_001322011.1:c.1314T>A NP_001308940.1:p.Asn438Lys
NM_001322012.1:c.1314T>A NP_001308941.1:p.Asn438Lys
NM_001322013.1:c.1674T>A NP_001308942.1:p.Asn558Lys
NM_001322014.1:c.2247T>A NP_001308943.1:p.Asn749Lys
NM_001322015.1:c.1938T>A NP_001308944.1:p.Asn646Lys
NR_136154.1:n.2334T>A
XM_006715744.4:c.1314T>A XP_006715807.1:p.Asn438Lys
XM_017012342.2:c.1314T>A XP_016867831.1:p.Asn438Lys
XM_024446800.1:c.1686T>A XP_024302568.1:p.Asn562Lys
NM_000535.7:c.2247T>A MANE Select NP_000526.2:p.Asn749Lys
NM_001322003.2:c.1842T>A NP_001308932.1:p.Asn614Lys
NM_001322004.2:c.1842T>A NP_001308933.1:p.Asn614Lys
NM_001322005.2:c.1842T>A NP_001308934.1:p.Asn614Lys
NM_001322006.2:c.2091T>A NP_001308935.1:p.Asn697Lys
NM_001322008.2:c.1929T>A NP_001308937.1:p.Asn643Lys
NM_001322009.2:c.1842T>A NP_001308938.1:p.Asn614Lys
NM_001322010.2:c.1686T>A NP_001308939.1:p.Asn562Lys
NM_001322011.2:c.1314T>A NP_001308940.1:p.Asn438Lys
NM_001322012.2:c.1314T>A NP_001308941.1:p.Asn438Lys
NM_001322013.2:c.1674T>A NP_001308942.1:p.Asn558Lys
NM_001322014.2:c.2247T>A NP_001308943.1:p.Asn749Lys
NM_001322015.2:c.1938T>A NP_001308944.1:p.Asn646Lys
NM_001322007.2:c.1929T>A NP_001308936.1:p.Asn643Lys