Canonical Allele Identifier: CA1097963985

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2183182
• ClinVar RCV Id: RCV002615384
• dbSNP Id: rs1583333806
• gnomAD v3: 7-5989790-T-C
• gnomAD v4: 7-5989790-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989790T>C , CM000669.2:g.5989790T>C	GRCh38
NC_000007.13:g.6029421T>C , CM000669.1:g.6029421T>C	GRCh37
NC_000007.12:g.5995947T>C	NCBI36
NG_008466.1:g.24317A>G , LRG_161:g.24317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*540+10A>G	ENSP00000514615.2:n.*540+10A>G
ENST00000699840.2:c.1141+10A>G	ENSP00000514638.2:n.1141+10A>G
ENST00000699930.2:c.1036+10A>G	ENSP00000514695.2:n.1036+10A>G
ENST00000406569.8:c.1144+10A>G	ENSP00000514464.1:n.1144+10A>G
ENST00000644110.2:c.*738+10A>G	ENSP00000496392.2:n.*738+10A>G
ENST00000699752.1:c.989-2170A>G	ENSP00000514561.1:n.989-2170A>G
ENST00000699753.1:c.*565+10A>G	ENSP00000514562.1:n.*565+10A>G
ENST00000699754.1:c.946+10A>G	ENSP00000514563.1:n.946+10A>G
ENST00000699755.1:c.*543+10A>G	ENSP00000514564.1:n.*543+10A>G
ENST00000699756.1:c.*731+10A>G	ENSP00000514565.1:n.*731+10A>G
ENST00000699757.1:c.*401+10A>G	ENSP00000514566.1:n.*401+10A>G
ENST00000699758.1:c.*401+10A>G	ENSP00000514567.1:n.*401+10A>G
ENST00000699759.1:n.1998+10A>G
ENST00000699760.1:c.826+10A>G	ENSP00000514568.1:n.826+10A>G
ENST00000699761.1:c.739+10A>G	ENSP00000514569.1:n.739+10A>G
ENST00000699762.1:c.571+10A>G	ENSP00000514570.1:n.571+10A>G
ENST00000699763.1:c.*234+10A>G	ENSP00000514571.1:n.*234+10A>G
ENST00000699764.1:c.1144+10A>G	ENSP00000514572.1:n.1144+10A>G
ENST00000699765.1:c.*240+10A>G	ENSP00000514573.1:n.*240+10A>G
ENST00000699766.1:c.1144+10A>G	ENSP00000514574.1:n.1144+10A>G
ENST00000699767.1:c.1144+10A>G	ENSP00000514575.1:n.1144+10A>G
ENST00000699768.1:c.1144+10A>G	ENSP00000514576.1:n.1144+10A>G
ENST00000699811.1:c.739+10A>G	ENSP00000514614.1:n.739+10A>G
ENST00000699813.1:n.1257+10A>G
ENST00000699814.1:c.767+10A>G
ENST00000699815.1:c.*636+10A>G	ENSP00000514616.1:n.*636+10A>G
ENST00000699816.1:c.739+10A>G	ENSP00000514617.1:n.739+10A>G
ENST00000699817.1:c.*738+10A>G	ENSP00000514618.1:n.*738+10A>G
ENST00000699818.1:c.739+10A>G	ENSP00000514619.1:n.739+10A>G
ENST00000699819.1:c.*301+10A>G	ENSP00000514620.1:n.*301+10A>G
ENST00000699820.1:c.1144+10A>G	ENSP00000514621.1:n.1144+10A>G
ENST00000699821.1:c.739+10A>G	ENSP00000514622.1:n.739+10A>G
ENST00000699822.1:c.*596+10A>G	ENSP00000514623.1:n.*596+10A>G
ENST00000699823.1:c.739+10A>G	ENSP00000514624.1:n.739+10A>G
ENST00000699824.1:c.*647+10A>G	ENSP00000514625.1:n.*647+10A>G
ENST00000699825.1:c.584-2170A>G	ENSP00000514626.1:n.584-2170A>G
ENST00000699826.1:c.*543+10A>G	ENSP00000514627.1:n.*543+10A>G
ENST00000699827.1:c.976+10A>G	ENSP00000514628.1:n.976+10A>G
ENST00000699828.1:c.*234+10A>G	ENSP00000514629.1:n.*234+10A>G
ENST00000699829.1:c.*645+10A>G	ENSP00000514630.1:n.*645+10A>G
ENST00000699830.1:c.*543+10A>G	ENSP00000514631.1:n.*543+10A>G
ENST00000699833.1:n.2916+10A>G
ENST00000699837.1:c.739+10A>G	ENSP00000514635.1:n.739+10A>G
ENST00000699838.1:c.*1044+10A>G	ENSP00000514636.1:n.*1044+10A>G
ENST00000699839.1:c.1330+10A>G	ENSP00000514637.1:n.1330+10A>G
ENST00000699840.1:c.1141+10A>G	ENSP00000514638.1:n.1141+10A>G
ENST00000699916.1:c.*401+10A>G	ENSP00000514684.1:n.*401+10A>G
ENST00000699917.1:c.*593+10A>G	ENSP00000514685.1:n.*593+10A>G
ENST00000699918.1:c.*645+10A>G	ENSP00000514686.1:n.*645+10A>G
ENST00000699919.1:c.*731+10A>G	ENSP00000514687.1:n.*731+10A>G
ENST00000699920.1:c.*780+10A>G	ENSP00000514688.1:n.*780+10A>G
ENST00000699928.1:c.988+2183A>G	ENSP00000514693.1:n.988+2183A>G
ENST00000699929.1:c.*445+10A>G	ENSP00000514694.1:n.*445+10A>G
ENST00000699930.1:c.1036+10A>G	ENSP00000514695.1:n.1036+10A>G
ENST00000699931.1:n.2572+10A>G
ENST00000699932.1:c.*362+10A>G	ENSP00000514696.1:n.*362+10A>G
ENST00000699933.1:n.1134A>G
ENST00000699951.1:c.*240+10A>G	ENSP00000514706.1:n.*240+10A>G
ENST00000699952.1:c.803+7536A>G	ENSP00000514707.1:n.803+7536A>G
ENST00000699953.1:c.*251+10A>G	ENSP00000514708.1:n.*251+10A>G
ENST00000699954.1:c.*445+10A>G	ENSP00000514709.1:n.*445+10A>G
ENST00000265849.12:c.1144+10A>G MANE Select	ENSP00000265849.7:n.1144+10A>G
ENST00000642292.1:c.739+10A>G	ENSP00000495524.1:n.739+10A>G
ENST00000642456.1:c.739+10A>G	ENSP00000493814.1:n.739+10A>G
ENST00000643595.1:c.*543+10A>G	ENSP00000494497.1:n.*543+10A>G
ENST00000644110.1:c.826+10A>G	ENSP00000496392.1:n.826+10A>G
ENST00000265849.11:c.1144+10A>G	ENSP00000265849.7:n.1144+10A>G
ENST00000382321.5:c.804-6799A>G	ENSP00000371758.4:n.804-6799A>G
ENST00000406569.7:n.1144+10A>G
ENST00000441476.6:c.826+10A>G	ENSP00000392843.2:n.826+10A>G
ENST00000469652.1:n.63-6885A>G
NM_000535.5:c.1144+10A>G , LRG_161t1:c.1144+10A>G	NP_000526.1:n.1144+10A>G
NR_003085.2:n.1226+10A>G
XM_006715742.2:c.1138+10A>G	XP_006715805.1:n.1138+10A>G
XM_006715744.2:c.211+10A>G	XP_006715807.1:n.211+10A>G
XM_011515427.1:c.1189+10A>G	XP_011513729.1:n.1189+10A>G
XM_011515428.1:c.1034-2170A>G	XP_011513730.1:n.1034-2170A>G
XM_011515429.1:c.826+10A>G	XP_011513731.1:n.826+10A>G
XM_011515430.1:c.826+10A>G	XP_011513732.1:n.826+10A>G
NM_000535.6:c.1144+10A>G	NP_000526.2:n.1144+10A>G
NM_001322003.1:c.739+10A>G	NP_001308932.1:n.739+10A>G
NM_001322004.1:c.739+10A>G	NP_001308933.1:n.739+10A>G
NM_001322005.1:c.739+10A>G	NP_001308934.1:n.739+10A>G
NM_001322006.1:c.989-2170A>G	NP_001308935.1:n.989-2170A>G
NM_001322007.1:c.826+10A>G	NP_001308936.1:n.826+10A>G
NM_001322008.1:c.826+10A>G	NP_001308937.1:n.826+10A>G
NM_001322009.1:c.739+10A>G	NP_001308938.1:n.739+10A>G
NM_001322010.1:c.584-2170A>G	NP_001308939.1:n.584-2170A>G
NM_001322011.1:c.211+10A>G	NP_001308940.1:n.211+10A>G
NM_001322012.1:c.211+10A>G	NP_001308941.1:n.211+10A>G
NM_001322013.1:c.571+10A>G	NP_001308942.1:n.571+10A>G
NM_001322014.1:c.1144+10A>G	NP_001308943.1:n.1144+10A>G
NM_001322015.1:c.835+10A>G	NP_001308944.1:n.835+10A>G
NR_136154.1:n.1231+10A>G
XM_006715744.4:c.211+10A>G	XP_006715807.1:n.211+10A>G
XM_017012342.2:c.211+10A>G	XP_016867831.1:n.211+10A>G
XM_024446800.1:c.584-2170A>G	XP_024302568.1:n.584-2170A>G
NM_000535.7:c.1144+10A>G MANE Select	NP_000526.2:n.1144+10A>G
NM_001322003.2:c.739+10A>G	NP_001308932.1:n.739+10A>G
NM_001322004.2:c.739+10A>G	NP_001308933.1:n.739+10A>G
NM_001322005.2:c.739+10A>G	NP_001308934.1:n.739+10A>G
NM_001322006.2:c.989-2170A>G	NP_001308935.1:n.989-2170A>G
NM_001322008.2:c.826+10A>G	NP_001308937.1:n.826+10A>G
NM_001322009.2:c.739+10A>G	NP_001308938.1:n.739+10A>G
NM_001322010.2:c.584-2170A>G	NP_001308939.1:n.584-2170A>G
NM_001322011.2:c.211+10A>G	NP_001308940.1:n.211+10A>G
NM_001322012.2:c.211+10A>G	NP_001308941.1:n.211+10A>G
NM_001322013.2:c.571+10A>G	NP_001308942.1:n.571+10A>G
NM_001322014.2:c.1144+10A>G	NP_001308943.1:n.1144+10A>G
NM_001322015.2:c.835+10A>G	NP_001308944.1:n.835+10A>G
NM_001322007.2:c.826+10A>G	NP_001308936.1:n.826+10A>G