Canonical Allele Identifier: CA10578653
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 231993
dbSNP Id: rs876659480
gnomAD v2: 7-6022474-G-A
gnomAD v4: 7-5982843-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982843G>A , CM000669.2:g.5982843G>A GRCh38
NC_000007.13:g.6022474G>A , CM000669.1:g.6022474G>A GRCh37
NC_000007.12:g.5989000G>A NCBI36
NG_008466.1:g.31264C>T , LRG_161:g.31264C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1551C>T ENSP00000514615.2:n.*1551C>T
ENST00000699840.2:c.2152C>T ENSP00000514638.2:p.Gln718Ter
ENST00000699930.2:c.2047C>T ENSP00000514695.2:p.Gln683Ter
ENST00000406569.8:c.1678+4244C>T ENSP00000514464.1:n.1678+4244C>T
ENST00000644110.2:c.*1749C>T ENSP00000496392.2:n.*1749C>T
ENST00000699752.1:c.1999C>T ENSP00000514561.1:p.Gln667Ter
ENST00000699753.1:c.*1576C>T ENSP00000514562.1:n.*1576C>T
ENST00000699754.1:c.1957C>T ENSP00000514563.1:p.Gln653Ter
ENST00000699755.1:c.*1554C>T ENSP00000514564.1:n.*1554C>T
ENST00000699756.1:c.*1742C>T ENSP00000514565.1:n.*1742C>T
ENST00000699757.1:c.*1412C>T ENSP00000514566.1:n.*1412C>T
ENST00000699758.1:c.*1412C>T ENSP00000514567.1:n.*1412C>T
ENST00000699759.1:n.3009C>T
ENST00000699760.1:c.1837C>T ENSP00000514568.1:p.Gln613Ter
ENST00000699761.1:c.1750C>T ENSP00000514569.1:p.Gln584Ter
ENST00000699762.1:c.1582C>T ENSP00000514570.1:p.Gln528Ter
ENST00000699763.1:c.*1245C>T ENSP00000514571.1:n.*1245C>T
ENST00000699764.1:c.*473C>T ENSP00000514572.1:n.*473C>T
ENST00000699765.1:c.*1251C>T ENSP00000514573.1:n.*1251C>T
ENST00000699766.1:c.2155C>T ENSP00000514574.1:p.Gln719Ter
ENST00000699767.1:c.2155C>T ENSP00000514575.1:p.Gln719Ter
ENST00000699768.1:c.2155C>T ENSP00000514576.1:p.Gln719Ter
ENST00000699811.1:c.1750C>T ENSP00000514614.1:p.Gln584Ter
ENST00000699813.1:n.2268C>T
ENST00000699814.1:c.1778C>T
ENST00000699815.1:c.*1686C>T ENSP00000514616.1:n.*1686C>T
ENST00000699816.1:c.*1045C>T ENSP00000514617.1:n.*1045C>T
ENST00000699817.1:c.*1749C>T ENSP00000514618.1:n.*1749C>T
ENST00000699818.1:c.1750C>T ENSP00000514619.1:p.Gln584Ter
ENST00000699819.1:c.*1312C>T ENSP00000514620.1:n.*1312C>T
ENST00000699820.1:c.*93C>T ENSP00000514621.1:n.*93C>T
ENST00000699821.1:c.1750C>T ENSP00000514622.1:p.Gln584Ter
ENST00000699822.1:c.*1607C>T ENSP00000514623.1:n.*1607C>T
ENST00000699823.1:c.1750C>T ENSP00000514624.1:p.Gln584Ter
ENST00000699824.1:c.*1658C>T ENSP00000514625.1:n.*1658C>T
ENST00000699825.1:c.1594C>T ENSP00000514626.1:p.Gln532Ter
ENST00000699826.1:c.*1554C>T ENSP00000514627.1:n.*1554C>T
ENST00000699827.1:c.1987C>T ENSP00000514628.1:p.Gln663Ter
ENST00000699828.1:c.*1245C>T ENSP00000514629.1:n.*1245C>T
ENST00000699833.1:n.3927C>T
ENST00000699837.1:c.1750C>T ENSP00000514635.1:p.Gln584Ter
ENST00000699838.1:c.*2055C>T ENSP00000514636.1:n.*2055C>T
ENST00000699839.1:c.2341C>T ENSP00000514637.1:p.Gln781Ter
ENST00000699916.1:c.*1412C>T ENSP00000514684.1:n.*1412C>T
ENST00000699917.1:c.*1604C>T ENSP00000514685.1:n.*1604C>T
ENST00000699918.1:c.*1656C>T ENSP00000514686.1:n.*1656C>T
ENST00000699919.1:c.*1742C>T ENSP00000514687.1:n.*1742C>T
ENST00000699920.1:c.*1791C>T ENSP00000514688.1:n.*1791C>T
ENST00000699928.1:c.*93C>T ENSP00000514693.1:n.*93C>T
ENST00000699951.1:c.*1251C>T ENSP00000514706.1:n.*1251C>T
ENST00000699952.1:c.804-9301C>T ENSP00000514707.1:n.804-9301C>T
ENST00000265849.12:c.2155C>T MANE Select ENSP00000265849.7:p.Gln719Ter
ENST00000642292.1:c.1750C>T ENSP00000495524.1:p.Gln584Ter
ENST00000642456.1:c.1750C>T ENSP00000493814.1:p.Gln584Ter
ENST00000643595.1:c.*1554C>T ENSP00000494497.1:n.*1554C>T
ENST00000644110.1:c.1837C>T ENSP00000496392.1:p.Gln613Ter
ENST00000265849.11:c.2155C>T ENSP00000265849.7:p.Gln719Ter
ENST00000382321.5:c.952C>T ENSP00000371758.4:p.Gln318Ter
ENST00000406569.7:n.1678+4244C>T
ENST00000441476.6:c.1837C>T ENSP00000392843.2:p.Gln613Ter
NM_000535.5:c.2155C>T , LRG_161t1:c.2155C>T NP_000526.1:p.Gln719Ter
NR_003085.2:n.2237C>T
XM_006715742.2:c.2149C>T XP_006715805.1:p.Gln717Ter
XM_006715744.2:c.1222C>T XP_006715807.1:p.Gln408Ter
XM_011515427.1:c.2200C>T XP_011513729.1:p.Gln734Ter
XM_011515428.1:c.2044C>T XP_011513730.1:p.Gln682Ter
XM_011515429.1:c.1837C>T XP_011513731.1:p.Gln613Ter
XM_011515430.1:c.1837C>T XP_011513732.1:p.Gln613Ter
NM_000535.6:c.2155C>T NP_000526.2:p.Gln719Ter
NM_001322003.1:c.1750C>T NP_001308932.1:p.Gln584Ter
NM_001322004.1:c.1750C>T NP_001308933.1:p.Gln584Ter
NM_001322005.1:c.1750C>T NP_001308934.1:p.Gln584Ter
NM_001322006.1:c.1999C>T NP_001308935.1:p.Gln667Ter
NM_001322007.1:c.1837C>T NP_001308936.1:p.Gln613Ter
NM_001322008.1:c.1837C>T NP_001308937.1:p.Gln613Ter
NM_001322009.1:c.1750C>T NP_001308938.1:p.Gln584Ter
NM_001322010.1:c.1594C>T NP_001308939.1:p.Gln532Ter
NM_001322011.1:c.1222C>T NP_001308940.1:p.Gln408Ter
NM_001322012.1:c.1222C>T NP_001308941.1:p.Gln408Ter
NM_001322013.1:c.1582C>T NP_001308942.1:p.Gln528Ter
NM_001322014.1:c.2155C>T NP_001308943.1:p.Gln719Ter
NM_001322015.1:c.1846C>T NP_001308944.1:p.Gln616Ter
NR_136154.1:n.2242C>T
XM_006715744.4:c.1222C>T XP_006715807.1:p.Gln408Ter
XM_017012342.2:c.1222C>T XP_016867831.1:p.Gln408Ter
XM_024446800.1:c.1594C>T XP_024302568.1:p.Gln532Ter
NM_000535.7:c.2155C>T MANE Select NP_000526.2:p.Gln719Ter
NM_001322003.2:c.1750C>T NP_001308932.1:p.Gln584Ter
NM_001322004.2:c.1750C>T NP_001308933.1:p.Gln584Ter
NM_001322005.2:c.1750C>T NP_001308934.1:p.Gln584Ter
NM_001322006.2:c.1999C>T NP_001308935.1:p.Gln667Ter
NM_001322008.2:c.1837C>T NP_001308937.1:p.Gln613Ter
NM_001322009.2:c.1750C>T NP_001308938.1:p.Gln584Ter
NM_001322010.2:c.1594C>T NP_001308939.1:p.Gln532Ter
NM_001322011.2:c.1222C>T NP_001308940.1:p.Gln408Ter
NM_001322012.2:c.1222C>T NP_001308941.1:p.Gln408Ter
NM_001322013.2:c.1582C>T NP_001308942.1:p.Gln528Ter
NM_001322014.2:c.2155C>T NP_001308943.1:p.Gln719Ter
NM_001322015.2:c.1846C>T NP_001308944.1:p.Gln616Ter
NM_001322007.2:c.1837C>T NP_001308936.1:p.Gln613Ter