Canonical Allele Identifier: CA453643219
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1985422
ClinVar RCV Id: RCV002780737
dbSNP Id: rs775355718
gnomAD v4: 7-5982889-C-A
MyVariant Identifiers: chr7:g.6022520C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982889C>A , CM000669.2:g.5982889C>A GRCh38
NC_000007.13:g.6022520C>A , CM000669.1:g.6022520C>A GRCh37
NC_000007.12:g.5989046C>A NCBI36
NG_008466.1:g.31218G>T , LRG_161:g.31218G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*1505G>T ENSP00000514615.2:n.*1505G>T
ENST00000699840.2:c.2106G>T ENSP00000514638.2:p.Thr702=
ENST00000699930.2:c.2001G>T ENSP00000514695.2:p.Thr667=
ENST00000406569.8:c.1678+4198G>T ENSP00000514464.1:n.1678+4198G>T
ENST00000644110.2:c.*1703G>T ENSP00000496392.2:n.*1703G>T
ENST00000699752.1:c.1953G>T ENSP00000514561.1:p.Thr651=
ENST00000699753.1:c.*1530G>T ENSP00000514562.1:n.*1530G>T
ENST00000699754.1:c.1911G>T ENSP00000514563.1:p.Thr637=
ENST00000699755.1:c.*1508G>T ENSP00000514564.1:n.*1508G>T
ENST00000699756.1:c.*1696G>T ENSP00000514565.1:n.*1696G>T
ENST00000699757.1:c.*1366G>T ENSP00000514566.1:n.*1366G>T
ENST00000699758.1:c.*1366G>T ENSP00000514567.1:n.*1366G>T
ENST00000699759.1:n.2963G>T
ENST00000699760.1:c.1791G>T ENSP00000514568.1:p.Thr597=
ENST00000699761.1:c.1704G>T ENSP00000514569.1:p.Thr568=
ENST00000699762.1:c.1536G>T ENSP00000514570.1:p.Thr512=
ENST00000699763.1:c.*1199G>T ENSP00000514571.1:n.*1199G>T
ENST00000699764.1:c.*427G>T ENSP00000514572.1:n.*427G>T
ENST00000699765.1:c.*1205G>T ENSP00000514573.1:n.*1205G>T
ENST00000699766.1:c.2109G>T ENSP00000514574.1:p.Thr703=
ENST00000699767.1:c.2109G>T ENSP00000514575.1:p.Thr703=
ENST00000699768.1:c.2109G>T ENSP00000514576.1:p.Thr703=
ENST00000699811.1:c.1704G>T ENSP00000514614.1:p.Thr568=
ENST00000699813.1:n.2222G>T
ENST00000699814.1:c.1732G>T
ENST00000699815.1:c.*1640G>T ENSP00000514616.1:n.*1640G>T
ENST00000699816.1:c.*999G>T ENSP00000514617.1:n.*999G>T
ENST00000699817.1:c.*1703G>T ENSP00000514618.1:n.*1703G>T
ENST00000699818.1:c.1704G>T ENSP00000514619.1:p.Thr568=
ENST00000699819.1:c.*1266G>T ENSP00000514620.1:n.*1266G>T
ENST00000699820.1:c.*47G>T ENSP00000514621.1:n.*47G>T
ENST00000699821.1:c.1704G>T ENSP00000514622.1:p.Thr568=
ENST00000699822.1:c.*1561G>T ENSP00000514623.1:n.*1561G>T
ENST00000699823.1:c.1704G>T ENSP00000514624.1:p.Thr568=
ENST00000699824.1:c.*1612G>T ENSP00000514625.1:n.*1612G>T
ENST00000699825.1:c.1548G>T ENSP00000514626.1:p.Thr516=
ENST00000699826.1:c.*1508G>T ENSP00000514627.1:n.*1508G>T
ENST00000699827.1:c.1941G>T ENSP00000514628.1:p.Thr647=
ENST00000699828.1:c.*1199G>T ENSP00000514629.1:n.*1199G>T
ENST00000699833.1:n.3881G>T
ENST00000699837.1:c.1704G>T ENSP00000514635.1:p.Thr568=
ENST00000699838.1:c.*2009G>T ENSP00000514636.1:n.*2009G>T
ENST00000699839.1:c.2295G>T ENSP00000514637.1:p.Thr765=
ENST00000699916.1:c.*1366G>T ENSP00000514684.1:n.*1366G>T
ENST00000699917.1:c.*1558G>T ENSP00000514685.1:n.*1558G>T
ENST00000699918.1:c.*1610G>T ENSP00000514686.1:n.*1610G>T
ENST00000699919.1:c.*1696G>T ENSP00000514687.1:n.*1696G>T
ENST00000699920.1:c.*1745G>T ENSP00000514688.1:n.*1745G>T
ENST00000699928.1:c.*47G>T ENSP00000514693.1:n.*47G>T
ENST00000699951.1:c.*1205G>T ENSP00000514706.1:n.*1205G>T
ENST00000699952.1:c.804-9347G>T ENSP00000514707.1:n.804-9347G>T
ENST00000265849.12:c.2109G>T MANE Select ENSP00000265849.7:p.Thr703=
ENST00000642292.1:c.1704G>T ENSP00000495524.1:p.Thr568=
ENST00000642456.1:c.1704G>T ENSP00000493814.1:p.Thr568=
ENST00000643595.1:c.*1508G>T ENSP00000494497.1:n.*1508G>T
ENST00000644110.1:c.1791G>T ENSP00000496392.1:p.Thr597=
ENST00000265849.11:c.2109G>T ENSP00000265849.7:p.Thr703=
ENST00000382321.5:c.906G>T ENSP00000371758.4:p.Thr302=
ENST00000406569.7:n.1678+4198G>T
ENST00000441476.6:c.1791G>T ENSP00000392843.2:p.Thr597=
ENST00000469652.1:n.79G>T
NM_000535.5:c.2109G>T , LRG_161t1:c.2109G>T NP_000526.1:p.Thr703=
NR_003085.2:n.2191G>T
XM_006715742.2:c.2103G>T XP_006715805.1:p.Thr701=
XM_006715744.2:c.1176G>T XP_006715807.1:p.Thr392=
XM_011515427.1:c.2154G>T XP_011513729.1:p.Thr718=
XM_011515428.1:c.1998G>T XP_011513730.1:p.Thr666=
XM_011515429.1:c.1791G>T XP_011513731.1:p.Thr597=
XM_011515430.1:c.1791G>T XP_011513732.1:p.Thr597=
NM_000535.6:c.2109G>T NP_000526.2:p.Thr703=
NM_001322003.1:c.1704G>T NP_001308932.1:p.Thr568=
NM_001322004.1:c.1704G>T NP_001308933.1:p.Thr568=
NM_001322005.1:c.1704G>T NP_001308934.1:p.Thr568=
NM_001322006.1:c.1953G>T NP_001308935.1:p.Thr651=
NM_001322007.1:c.1791G>T NP_001308936.1:p.Thr597=
NM_001322008.1:c.1791G>T NP_001308937.1:p.Thr597=
NM_001322009.1:c.1704G>T NP_001308938.1:p.Thr568=
NM_001322010.1:c.1548G>T NP_001308939.1:p.Thr516=
NM_001322011.1:c.1176G>T NP_001308940.1:p.Thr392=
NM_001322012.1:c.1176G>T NP_001308941.1:p.Thr392=
NM_001322013.1:c.1536G>T NP_001308942.1:p.Thr512=
NM_001322014.1:c.2109G>T NP_001308943.1:p.Thr703=
NM_001322015.1:c.1800G>T NP_001308944.1:p.Thr600=
NR_136154.1:n.2196G>T
XM_006715744.4:c.1176G>T XP_006715807.1:p.Thr392=
XM_017012342.2:c.1176G>T XP_016867831.1:p.Thr392=
XM_024446800.1:c.1548G>T XP_024302568.1:p.Thr516=
NM_000535.7:c.2109G>T MANE Select NP_000526.2:p.Thr703=
NM_001322003.2:c.1704G>T NP_001308932.1:p.Thr568=
NM_001322004.2:c.1704G>T NP_001308933.1:p.Thr568=
NM_001322005.2:c.1704G>T NP_001308934.1:p.Thr568=
NM_001322006.2:c.1953G>T NP_001308935.1:p.Thr651=
NM_001322008.2:c.1791G>T NP_001308937.1:p.Thr597=
NM_001322009.2:c.1704G>T NP_001308938.1:p.Thr568=
NM_001322010.2:c.1548G>T NP_001308939.1:p.Thr516=
NM_001322011.2:c.1176G>T NP_001308940.1:p.Thr392=
NM_001322012.2:c.1176G>T NP_001308941.1:p.Thr392=
NM_001322013.2:c.1536G>T NP_001308942.1:p.Thr512=
NM_001322014.2:c.2109G>T NP_001308943.1:p.Thr703=
NM_001322015.2:c.1800G>T NP_001308944.1:p.Thr600=
NM_001322007.2:c.1791G>T NP_001308936.1:p.Thr597=