Canonical Allele Identifier: CA1685246035

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973422G= , CM000669.2:g.5973422G=	GRCh38
NC_000007.13:g.6013053G= , CM000669.1:g.6013053G=	GRCh37
NC_000007.12:g.5979579G=	NCBI36
NG_008466.1:g.40685C= , LRG_161:g.40685C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1962C=	ENSP00000514615.2:n.*1962C=
ENST00000699840.2:c.2563C=	ENSP00000514638.2:p.Leu855=
ENST00000699930.2:c.2458C=	ENSP00000514695.2:p.Leu820=
ENST00000406569.8:c.1926C=	ENSP00000514464.1:n.1926C=
ENST00000644110.2:c.*2160C=	ENSP00000496392.2:n.*2160C=
ENST00000699752.1:c.2410C=	ENSP00000514561.1:p.Leu804=
ENST00000699753.1:c.*1987C=	ENSP00000514562.1:n.*1987C=
ENST00000699754.1:c.2368C=	ENSP00000514563.1:p.Leu790=
ENST00000699755.1:c.*1965C=	ENSP00000514564.1:n.*1965C=
ENST00000699756.1:c.*2153C=	ENSP00000514565.1:n.*2153C=
ENST00000699757.1:c.*1823C=	ENSP00000514566.1:n.*1823C=
ENST00000699758.1:c.*1823C=	ENSP00000514567.1:n.*1823C=
ENST00000699759.1:n.3420C=
ENST00000699760.1:c.2248C=	ENSP00000514568.1:p.Leu750=
ENST00000699761.1:c.2161C=	ENSP00000514569.1:p.Leu721=
ENST00000699762.1:c.1993C=	ENSP00000514570.1:p.Leu665=
ENST00000699763.1:c.*1656C=	ENSP00000514571.1:n.*1656C=
ENST00000699764.1:c.*884C=	ENSP00000514572.1:n.*884C=
ENST00000699765.1:c.*1561C=	ENSP00000514573.1:n.*1561C=
ENST00000699766.1:c.2599C=	ENSP00000514574.1:p.Leu867=
ENST00000699767.1:c.*207C=	ENSP00000514575.1:n.*207C=
ENST00000699768.1:c.2422C=	ENSP00000514576.1:p.Leu808=
ENST00000699811.1:c.2161C=	ENSP00000514614.1:p.Leu721=
ENST00000699813.1:n.2679C=
ENST00000699814.1:c.2189C=
ENST00000699815.1:c.*2097C=	ENSP00000514616.1:n.*2097C=
ENST00000699816.1:c.*1456C=	ENSP00000514617.1:n.*1456C=
ENST00000699817.1:c.*2160C=	ENSP00000514618.1:n.*2160C=
ENST00000699818.1:c.2161C=	ENSP00000514619.1:p.Leu721=
ENST00000699819.1:c.*1723C=	ENSP00000514620.1:n.*1723C=
ENST00000699820.1:c.*504C=	ENSP00000514621.1:n.*504C=
ENST00000699821.1:c.2194C=	ENSP00000514622.1:p.Leu732=
ENST00000699822.1:c.*2018C=	ENSP00000514623.1:n.*2018C=
ENST00000699823.1:c.2161C=	ENSP00000514624.1:p.Leu721=
ENST00000699824.1:c.*2069C=	ENSP00000514625.1:n.*2069C=
ENST00000699825.1:c.2005C=	ENSP00000514626.1:p.Leu669=
ENST00000699826.1:c.*1965C=	ENSP00000514627.1:n.*1965C=
ENST00000699827.1:c.2398C=	ENSP00000514628.1:p.Leu800=
ENST00000699828.1:c.*1656C=	ENSP00000514629.1:n.*1656C=
ENST00000699833.1:n.4338C=
ENST00000699837.1:c.2161C=	ENSP00000514635.1:p.Leu721=
ENST00000699838.1:c.*2466C=	ENSP00000514636.1:n.*2466C=
ENST00000699839.1:c.2752C=	ENSP00000514637.1:p.Leu918=
ENST00000699916.1:c.*1823C=	ENSP00000514684.1:n.*1823C=
ENST00000699917.1:c.*2015C=	ENSP00000514685.1:n.*2015C=
ENST00000699918.1:c.*2067C=	ENSP00000514686.1:n.*2067C=
ENST00000699919.1:c.*2153C=	ENSP00000514687.1:n.*2153C=
ENST00000699920.1:c.*2202C=	ENSP00000514688.1:n.*2202C=
ENST00000699928.1:c.*504C=	ENSP00000514693.1:n.*504C=
ENST00000699951.1:c.*1619C=	ENSP00000514706.1:n.*1619C=
ENST00000699952.1:c.*120C=	ENSP00000514707.1:n.*120C=
ENST00000265849.12:c.2566C= MANE Select	ENSP00000265849.7:p.Leu856=
ENST00000642292.1:c.2161C=	ENSP00000495524.1:p.Leu721=
ENST00000642456.1:c.2161C=	ENSP00000493814.1:p.Leu721=
ENST00000643595.1:c.*1965C=	ENSP00000494497.1:n.*1965C=
ENST00000644110.1:c.2248C=	ENSP00000496392.1:p.Leu750=
ENST00000265849.11:c.2566C=	ENSP00000265849.7:p.Leu856=
ENST00000382321.5:c.1363C=	ENSP00000371758.4:p.Leu455=
ENST00000441476.6:c.2248C=	ENSP00000392843.2:p.Leu750=
NM_000535.5:c.2566C= , LRG_161t1:c.2566C=	NP_000526.1:p.Leu856=
NR_003085.2:n.2648C=
XM_006715742.2:c.2560C=	XP_006715805.1:p.Leu854=
XM_006715744.2:c.1633C=	XP_006715807.1:p.Leu545=
XM_011515427.1:c.2611C=	XP_011513729.1:p.Leu871=
XM_011515428.1:c.2455C=	XP_011513730.1:p.Leu819=
XM_011515429.1:c.2248C=	XP_011513731.1:p.Leu750=
XM_011515430.1:c.2248C=	XP_011513732.1:p.Leu750=
NM_000535.6:c.2566C=	NP_000526.2:p.Leu856=
NM_001322003.1:c.2161C=	NP_001308932.1:p.Leu721=
NM_001322004.1:c.2161C=	NP_001308933.1:p.Leu721=
NM_001322005.1:c.2161C=	NP_001308934.1:p.Leu721=
NM_001322006.1:c.2410C=	NP_001308935.1:p.Leu804=
NM_001322007.1:c.2248C=	NP_001308936.1:p.Leu750=
NM_001322008.1:c.2248C=	NP_001308937.1:p.Leu750=
NM_001322009.1:c.2194C=	NP_001308938.1:p.Leu732=
NM_001322010.1:c.2005C=	NP_001308939.1:p.Leu669=
NM_001322011.1:c.1633C=	NP_001308940.1:p.Leu545=
NM_001322012.1:c.1633C=	NP_001308941.1:p.Leu545=
NM_001322013.1:c.1993C=	NP_001308942.1:p.Leu665=
NM_001322014.1:c.2599C=	NP_001308943.1:p.Leu867=
NM_001322015.1:c.2257C=	NP_001308944.1:p.Leu753=
NR_136154.1:n.2610C=
XM_006715744.4:c.1633C=	XP_006715807.1:p.Leu545=
XM_017012342.2:c.1633C=	XP_016867831.1:p.Leu545=
XM_024446800.1:c.2005C=	XP_024302568.1:p.Leu669=
NM_000535.7:c.2566C= MANE Select	NP_000526.2:p.Leu856=
NM_001322003.2:c.2161C=	NP_001308932.1:p.Leu721=
NM_001322004.2:c.2161C=	NP_001308933.1:p.Leu721=
NM_001322005.2:c.2161C=	NP_001308934.1:p.Leu721=
NM_001322006.2:c.2410C=	NP_001308935.1:p.Leu804=
NM_001322008.2:c.2248C=	NP_001308937.1:p.Leu750=
NM_001322009.2:c.2194C=	NP_001308938.1:p.Leu732=
NM_001322010.2:c.2005C=	NP_001308939.1:p.Leu669=
NM_001322011.2:c.1633C=	NP_001308940.1:p.Leu545=
NM_001322012.2:c.1633C=	NP_001308941.1:p.Leu545=
NM_001322013.2:c.1993C=	NP_001308942.1:p.Leu665=
NM_001322014.2:c.2599C=	NP_001308943.1:p.Leu867=
NM_001322015.2:c.2257C=	NP_001308944.1:p.Leu753=
NM_001322007.2:c.2248C=	NP_001308936.1:p.Leu750=