Canonical Allele Identifier: CA1685241635
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5992019A= , CM000669.2:g.5992019A= GRCh38
NC_000007.13:g.6031650A= , CM000669.1:g.6031650A= GRCh37
NC_000007.12:g.5998176A= NCBI36
NG_008466.1:g.22088T= , LRG_161:g.22088T=

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*338T= ENSP00000514615.2:n.*338T=
ENST00000699840.2:c.939T= ENSP00000514638.2:p.Asn313=
ENST00000699930.2:c.834T= ENSP00000514695.2:p.Asn278=
ENST00000406569.8:c.942T= ENSP00000514464.1:p.Asn314=
ENST00000644110.2:c.*536T= ENSP00000496392.2:n.*536T=
ENST00000699752.1:c.942T= ENSP00000514561.1:p.Asn314=
ENST00000699753.1:c.*241T= ENSP00000514562.1:n.*241T=
ENST00000699754.1:c.744T= ENSP00000514563.1:p.Asn248=
ENST00000699755.1:c.*341T= ENSP00000514564.1:n.*341T=
ENST00000699756.1:c.*529T= ENSP00000514565.1:n.*529T=
ENST00000699757.1:c.*199T= ENSP00000514566.1:n.*199T=
ENST00000699758.1:c.*199T= ENSP00000514567.1:n.*199T=
ENST00000699759.1:n.1796T=
ENST00000699760.1:c.624T= ENSP00000514568.1:p.Asn208=
ENST00000699761.1:c.537T= ENSP00000514569.1:p.Asn179=
ENST00000699762.1:c.369T= ENSP00000514570.1:p.Asn123=
ENST00000699763.1:c.537T= ENSP00000514571.1:p.Asn179=
ENST00000699764.1:c.942T= ENSP00000514572.1:p.Asn314=
ENST00000699765.1:c.*38T= ENSP00000514573.1:n.*38T=
ENST00000699766.1:c.942T= ENSP00000514574.1:p.Asn314=
ENST00000699767.1:c.942T= ENSP00000514575.1:p.Asn314=
ENST00000699768.1:c.942T= ENSP00000514576.1:p.Asn314=
ENST00000699811.1:c.537T= ENSP00000514614.1:p.Asn179=
ENST00000699813.1:n.1055T=
ENST00000699814.1:c.565T=
ENST00000699815.1:c.*434T= ENSP00000514616.1:n.*434T=
ENST00000699816.1:c.537T= ENSP00000514617.1:p.Asn179=
ENST00000699817.1:c.*536T= ENSP00000514618.1:n.*536T=
ENST00000699818.1:c.537T= ENSP00000514619.1:p.Asn179=
ENST00000699819.1:c.*99T= ENSP00000514620.1:n.*99T=
ENST00000699820.1:c.942T= ENSP00000514621.1:p.Asn314=
ENST00000699821.1:c.537T= ENSP00000514622.1:p.Asn179=
ENST00000699822.1:c.*394T= ENSP00000514623.1:n.*394T=
ENST00000699823.1:c.537T= ENSP00000514624.1:p.Asn179=
ENST00000699824.1:c.*445T= ENSP00000514625.1:n.*445T=
ENST00000699825.1:c.537T= ENSP00000514626.1:p.Asn179=
ENST00000699826.1:c.*341T= ENSP00000514627.1:n.*341T=
ENST00000699827.1:c.774T= ENSP00000514628.1:p.Asn258=
ENST00000699828.1:c.942T= ENSP00000514629.1:p.Asn314=
ENST00000699829.1:c.*443T= ENSP00000514630.1:n.*443T=
ENST00000699830.1:c.*341T= ENSP00000514631.1:n.*341T=
ENST00000699833.1:n.2714T=
ENST00000699837.1:c.537T= ENSP00000514635.1:p.Asn179=
ENST00000699838.1:c.*842T= ENSP00000514636.1:n.*842T=
ENST00000699839.1:c.1128T= ENSP00000514637.1:p.Asn376=
ENST00000699840.1:c.939T= ENSP00000514638.1:p.Asn313=
ENST00000699916.1:c.*199T= ENSP00000514684.1:n.*199T=
ENST00000699917.1:c.*391T= ENSP00000514685.1:n.*391T=
ENST00000699918.1:c.*443T= ENSP00000514686.1:n.*443T=
ENST00000699919.1:c.*529T= ENSP00000514687.1:n.*529T=
ENST00000699920.1:c.*578T= ENSP00000514688.1:n.*578T=
ENST00000699928.1:c.942T= ENSP00000514693.1:p.Asn314=
ENST00000699929.1:c.*243T= ENSP00000514694.1:n.*243T=
ENST00000699930.1:c.834T= ENSP00000514695.1:p.Asn278=
ENST00000699931.1:n.2370T=
ENST00000699932.1:c.*38T= ENSP00000514696.1:n.*38T=
ENST00000699933.1:n.922T=
ENST00000699951.1:c.*38T= ENSP00000514706.1:n.*38T=
ENST00000699952.1:c.803+5307T= ENSP00000514707.1:n.803+5307T=
ENST00000699953.1:c.*49T= ENSP00000514708.1:n.*49T=
ENST00000699954.1:c.*243T= ENSP00000514709.1:n.*243T=
ENST00000265849.12:c.942T= MANE Select ENSP00000265849.7:p.Asn314=
ENST00000642292.1:c.537T= ENSP00000495524.1:p.Asn179=
ENST00000642456.1:c.537T= ENSP00000493814.1:p.Asn179=
ENST00000643595.1:c.*341T= ENSP00000494497.1:n.*341T=
ENST00000644110.1:c.624T= ENSP00000496392.1:p.Asn208=
ENST00000265849.11:c.942T= ENSP00000265849.7:p.Asn314=
ENST00000382321.5:c.803+5307T= ENSP00000371758.4:n.803+5307T=
ENST00000406569.7:n.942T=
ENST00000441476.6:c.624T= ENSP00000392843.2:p.Asn208=
ENST00000469652.1:n.63-9114T=
NM_000535.5:c.942T= , LRG_161t1:c.942T= NP_000526.1:p.Asn314=
NR_003085.2:n.1024T=
XM_006715742.2:c.936T= XP_006715805.1:p.Asn312=
XM_006715744.2:c.9T= XP_006715807.1:p.Asn3=
XM_011515427.1:c.987T= XP_011513729.1:p.Asn329=
XM_011515428.1:c.987T= XP_011513730.1:p.Asn329=
XM_011515429.1:c.624T= XP_011513731.1:p.Asn208=
XM_011515430.1:c.624T= XP_011513732.1:p.Asn208=
NM_000535.6:c.942T= NP_000526.2:p.Asn314=
NM_001322003.1:c.537T= NP_001308932.1:p.Asn179=
NM_001322004.1:c.537T= NP_001308933.1:p.Asn179=
NM_001322005.1:c.537T= NP_001308934.1:p.Asn179=
NM_001322006.1:c.942T= NP_001308935.1:p.Asn314=
NM_001322007.1:c.624T= NP_001308936.1:p.Asn208=
NM_001322008.1:c.624T= NP_001308937.1:p.Asn208=
NM_001322009.1:c.537T= NP_001308938.1:p.Asn179=
NM_001322010.1:c.537T= NP_001308939.1:p.Asn179=
NM_001322011.1:c.9T= NP_001308940.1:p.Asn3=
NM_001322012.1:c.9T= NP_001308941.1:p.Asn3=
NM_001322013.1:c.369T= NP_001308942.1:p.Asn123=
NM_001322014.1:c.942T= NP_001308943.1:p.Asn314=
NM_001322015.1:c.633T= NP_001308944.1:p.Asn211=
NR_136154.1:n.1029T=
XM_006715744.4:c.9T= XP_006715807.1:p.Asn3=
XM_017012342.2:c.9T= XP_016867831.1:p.Asn3=
XM_024446800.1:c.537T= XP_024302568.1:p.Asn179=
NM_000535.7:c.942T= MANE Select NP_000526.2:p.Asn314=
NM_001322003.2:c.537T= NP_001308932.1:p.Asn179=
NM_001322004.2:c.537T= NP_001308933.1:p.Asn179=
NM_001322005.2:c.537T= NP_001308934.1:p.Asn179=
NM_001322006.2:c.942T= NP_001308935.1:p.Asn314=
NM_001322008.2:c.624T= NP_001308937.1:p.Asn208=
NM_001322009.2:c.537T= NP_001308938.1:p.Asn179=
NM_001322010.2:c.537T= NP_001308939.1:p.Asn179=
NM_001322011.2:c.9T= NP_001308940.1:p.Asn3=
NM_001322012.2:c.9T= NP_001308941.1:p.Asn3=
NM_001322013.2:c.369T= NP_001308942.1:p.Asn123=
NM_001322014.2:c.942T= NP_001308943.1:p.Asn314=
NM_001322015.2:c.633T= NP_001308944.1:p.Asn211=
NM_001322007.2:c.624T= NP_001308936.1:p.Asn208=