Canonical Allele Identifier: CA366741923

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1398859
• ClinVar RCV Id: RCV001893643
• dbSNP Id: rs2128730228
• MyVariant Identifiers: chr7:g.6026940C>G (hg19) ; chr7:g.5987309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987309C>G , CM000669.2:g.5987309C>G	GRCh38
NC_000007.13:g.6026940C>G , CM000669.1:g.6026940C>G	GRCh37
NC_000007.12:g.5993466C>G	NCBI36
NG_008466.1:g.26798G>C , LRG_161:g.26798G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*852G>C	ENSP00000514615.2:n.*852G>C
ENST00000699840.2:c.1453G>C	ENSP00000514638.2:p.Asp485His
ENST00000699930.2:c.1348G>C	ENSP00000514695.2:p.Asp450His
ENST00000406569.8:c.1456G>C	ENSP00000514464.1:p.Asp486His
ENST00000644110.2:c.*1050G>C	ENSP00000496392.2:n.*1050G>C
ENST00000699752.1:c.1300G>C	ENSP00000514561.1:p.Asp434His
ENST00000699753.1:c.*877G>C	ENSP00000514562.1:n.*877G>C
ENST00000699754.1:c.1258G>C	ENSP00000514563.1:p.Asp420His
ENST00000699755.1:c.*855G>C	ENSP00000514564.1:n.*855G>C
ENST00000699756.1:c.*1043G>C	ENSP00000514565.1:n.*1043G>C
ENST00000699757.1:c.*713G>C	ENSP00000514566.1:n.*713G>C
ENST00000699758.1:c.*713G>C	ENSP00000514567.1:n.*713G>C
ENST00000699759.1:n.2310G>C
ENST00000699760.1:c.1138G>C	ENSP00000514568.1:p.Asp380His
ENST00000699761.1:c.1051G>C	ENSP00000514569.1:p.Asp351His
ENST00000699762.1:c.883G>C	ENSP00000514570.1:p.Asp295His
ENST00000699763.1:c.*546G>C	ENSP00000514571.1:n.*546G>C
ENST00000699764.1:c.1456G>C	ENSP00000514572.1:p.Asp486His
ENST00000699765.1:c.*552G>C	ENSP00000514573.1:n.*552G>C
ENST00000699766.1:c.1456G>C	ENSP00000514574.1:p.Asp486His
ENST00000699767.1:c.1456G>C	ENSP00000514575.1:p.Asp486His
ENST00000699768.1:c.1456G>C	ENSP00000514576.1:p.Asp486His
ENST00000699811.1:c.1051G>C	ENSP00000514614.1:p.Asp351His
ENST00000699813.1:n.1569G>C
ENST00000699814.1:c.1079G>C
ENST00000699815.1:c.*987G>C	ENSP00000514616.1:n.*987G>C
ENST00000699816.1:c.*346G>C	ENSP00000514617.1:n.*346G>C
ENST00000699817.1:c.*1050G>C	ENSP00000514618.1:n.*1050G>C
ENST00000699818.1:c.1051G>C	ENSP00000514619.1:p.Asp351His
ENST00000699819.1:c.*613G>C	ENSP00000514620.1:n.*613G>C
ENST00000699820.1:c.1144+2491G>C	ENSP00000514621.1:n.1144+2491G>C
ENST00000699821.1:c.1051G>C	ENSP00000514622.1:p.Asp351His
ENST00000699822.1:c.*908G>C	ENSP00000514623.1:n.*908G>C
ENST00000699823.1:c.1051G>C	ENSP00000514624.1:p.Asp351His
ENST00000699824.1:c.*959G>C	ENSP00000514625.1:n.*959G>C
ENST00000699825.1:c.895G>C	ENSP00000514626.1:p.Asp299His
ENST00000699826.1:c.*855G>C	ENSP00000514627.1:n.*855G>C
ENST00000699827.1:c.1288G>C	ENSP00000514628.1:p.Asp430His
ENST00000699828.1:c.*546G>C	ENSP00000514629.1:n.*546G>C
ENST00000699833.1:n.3228G>C
ENST00000699837.1:c.1051G>C	ENSP00000514635.1:p.Asp351His
ENST00000699838.1:c.*1356G>C	ENSP00000514636.1:n.*1356G>C
ENST00000699839.1:c.1642G>C	ENSP00000514637.1:p.Asp548His
ENST00000699916.1:c.*713G>C	ENSP00000514684.1:n.*713G>C
ENST00000699917.1:c.*905G>C	ENSP00000514685.1:n.*905G>C
ENST00000699918.1:c.*957G>C	ENSP00000514686.1:n.*957G>C
ENST00000699919.1:c.*1043G>C	ENSP00000514687.1:n.*1043G>C
ENST00000699920.1:c.*1092G>C	ENSP00000514688.1:n.*1092G>C
ENST00000699928.1:c.989-4318G>C	ENSP00000514693.1:n.989-4318G>C
ENST00000699929.1:c.*757G>C	ENSP00000514694.1:n.*757G>C
ENST00000699930.1:c.1348G>C	ENSP00000514695.1:p.Asp450His
ENST00000699931.1:n.2884G>C
ENST00000699951.1:c.*552G>C	ENSP00000514706.1:n.*552G>C
ENST00000699952.1:c.803+10017G>C	ENSP00000514707.1:n.803+10017G>C
ENST00000699953.1:c.*563G>C	ENSP00000514708.1:n.*563G>C
ENST00000699954.1:c.*757G>C	ENSP00000514709.1:n.*757G>C
ENST00000265849.12:c.1456G>C MANE Select	ENSP00000265849.7:p.Asp486His
ENST00000642292.1:c.1051G>C	ENSP00000495524.1:p.Asp351His
ENST00000642456.1:c.1051G>C	ENSP00000493814.1:p.Asp351His
ENST00000643595.1:c.*855G>C	ENSP00000494497.1:n.*855G>C
ENST00000644110.1:c.1138G>C	ENSP00000496392.1:p.Asp380His
ENST00000265849.11:c.1456G>C	ENSP00000265849.7:p.Asp486His
ENST00000382321.5:c.804-4318G>C	ENSP00000371758.4:n.804-4318G>C
ENST00000406569.7:n.1456G>C
ENST00000441476.6:c.1138G>C	ENSP00000392843.2:p.Asp380His
ENST00000469652.1:n.63-4404G>C
NM_000535.5:c.1456G>C , LRG_161t1:c.1456G>C	NP_000526.1:p.Asp486His
NR_003085.2:n.1538G>C
XM_006715742.2:c.1450G>C	XP_006715805.1:p.Asp484His
XM_006715744.2:c.523G>C	XP_006715807.1:p.Asp175His
XM_011515427.1:c.1501G>C	XP_011513729.1:p.Asp501His
XM_011515428.1:c.1345G>C	XP_011513730.1:p.Asp449His
XM_011515429.1:c.1138G>C	XP_011513731.1:p.Asp380His
XM_011515430.1:c.1138G>C	XP_011513732.1:p.Asp380His
NM_000535.6:c.1456G>C	NP_000526.2:p.Asp486His
NM_001322003.1:c.1051G>C	NP_001308932.1:p.Asp351His
NM_001322004.1:c.1051G>C	NP_001308933.1:p.Asp351His
NM_001322005.1:c.1051G>C	NP_001308934.1:p.Asp351His
NM_001322006.1:c.1300G>C	NP_001308935.1:p.Asp434His
NM_001322007.1:c.1138G>C	NP_001308936.1:p.Asp380His
NM_001322008.1:c.1138G>C	NP_001308937.1:p.Asp380His
NM_001322009.1:c.1051G>C	NP_001308938.1:p.Asp351His
NM_001322010.1:c.895G>C	NP_001308939.1:p.Asp299His
NM_001322011.1:c.523G>C	NP_001308940.1:p.Asp175His
NM_001322012.1:c.523G>C	NP_001308941.1:p.Asp175His
NM_001322013.1:c.883G>C	NP_001308942.1:p.Asp295His
NM_001322014.1:c.1456G>C	NP_001308943.1:p.Asp486His
NM_001322015.1:c.1147G>C	NP_001308944.1:p.Asp383His
NR_136154.1:n.1543G>C
XM_006715744.4:c.523G>C	XP_006715807.1:p.Asp175His
XM_017012342.2:c.523G>C	XP_016867831.1:p.Asp175His
XM_024446800.1:c.895G>C	XP_024302568.1:p.Asp299His
NM_000535.7:c.1456G>C MANE Select	NP_000526.2:p.Asp486His
NM_001322003.2:c.1051G>C	NP_001308932.1:p.Asp351His
NM_001322004.2:c.1051G>C	NP_001308933.1:p.Asp351His
NM_001322005.2:c.1051G>C	NP_001308934.1:p.Asp351His
NM_001322006.2:c.1300G>C	NP_001308935.1:p.Asp434His
NM_001322008.2:c.1138G>C	NP_001308937.1:p.Asp380His
NM_001322009.2:c.1051G>C	NP_001308938.1:p.Asp351His
NM_001322010.2:c.895G>C	NP_001308939.1:p.Asp299His
NM_001322011.2:c.523G>C	NP_001308940.1:p.Asp175His
NM_001322012.2:c.523G>C	NP_001308941.1:p.Asp175His
NM_001322013.2:c.883G>C	NP_001308942.1:p.Asp295His
NM_001322014.2:c.1456G>C	NP_001308943.1:p.Asp486His
NM_001322015.2:c.1147G>C	NP_001308944.1:p.Asp383His
NM_001322007.2:c.1138G>C	NP_001308936.1:p.Asp380His