Canonical Allele Identifier: CA16605346

Gene: PMS2

Linked Data

• ClinVar Variation Id: 381492
• ClinVar RCV Id: RCV000422601 ; RCV000571759 ; RCV000758629 ; RCV000982398
• dbSNP Id: rs542520309
• gnomAD v4: 7-5987232-C-A
• MyVariant Identifiers: chr7:g.6026863C>A (hg19) ; chr7:g.5987232C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987232C>A , CM000669.2:g.5987232C>A	GRCh38
NC_000007.13:g.6026863C>A , CM000669.1:g.6026863C>A	GRCh37
NC_000007.12:g.5993389C>A	NCBI36
NG_008466.1:g.26875G>T , LRG_161:g.26875G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*929G>T	ENSP00000514615.2:n.*929G>T
ENST00000699840.2:c.1530G>T	ENSP00000514638.2:p.Thr510=
ENST00000699930.2:c.1425G>T	ENSP00000514695.2:p.Thr475=
ENST00000406569.8:c.1533G>T	ENSP00000514464.1:p.Thr511=
ENST00000644110.2:c.*1127G>T	ENSP00000496392.2:n.*1127G>T
ENST00000699752.1:c.1377G>T	ENSP00000514561.1:p.Thr459=
ENST00000699753.1:c.*954G>T	ENSP00000514562.1:n.*954G>T
ENST00000699754.1:c.1335G>T	ENSP00000514563.1:p.Thr445=
ENST00000699755.1:c.*932G>T	ENSP00000514564.1:n.*932G>T
ENST00000699756.1:c.*1120G>T	ENSP00000514565.1:n.*1120G>T
ENST00000699757.1:c.*790G>T	ENSP00000514566.1:n.*790G>T
ENST00000699758.1:c.*790G>T	ENSP00000514567.1:n.*790G>T
ENST00000699759.1:n.2387G>T
ENST00000699760.1:c.1215G>T	ENSP00000514568.1:p.Thr405=
ENST00000699761.1:c.1128G>T	ENSP00000514569.1:p.Thr376=
ENST00000699762.1:c.960G>T	ENSP00000514570.1:p.Thr320=
ENST00000699763.1:c.*623G>T	ENSP00000514571.1:n.*623G>T
ENST00000699764.1:c.1533G>T	ENSP00000514572.1:p.Thr511=
ENST00000699765.1:c.*629G>T	ENSP00000514573.1:n.*629G>T
ENST00000699766.1:c.1533G>T	ENSP00000514574.1:p.Thr511=
ENST00000699767.1:c.1533G>T	ENSP00000514575.1:p.Thr511=
ENST00000699768.1:c.1533G>T	ENSP00000514576.1:p.Thr511=
ENST00000699811.1:c.1128G>T	ENSP00000514614.1:p.Thr376=
ENST00000699813.1:n.1646G>T
ENST00000699814.1:c.1156G>T
ENST00000699815.1:c.*1064G>T	ENSP00000514616.1:n.*1064G>T
ENST00000699816.1:c.*423G>T	ENSP00000514617.1:n.*423G>T
ENST00000699817.1:c.*1127G>T	ENSP00000514618.1:n.*1127G>T
ENST00000699818.1:c.1128G>T	ENSP00000514619.1:p.Thr376=
ENST00000699819.1:c.*690G>T	ENSP00000514620.1:n.*690G>T
ENST00000699820.1:c.1144+2568G>T	ENSP00000514621.1:n.1144+2568G>T
ENST00000699821.1:c.1128G>T	ENSP00000514622.1:p.Thr376=
ENST00000699822.1:c.*985G>T	ENSP00000514623.1:n.*985G>T
ENST00000699823.1:c.1128G>T	ENSP00000514624.1:p.Thr376=
ENST00000699824.1:c.*1036G>T	ENSP00000514625.1:n.*1036G>T
ENST00000699825.1:c.972G>T	ENSP00000514626.1:p.Thr324=
ENST00000699826.1:c.*932G>T	ENSP00000514627.1:n.*932G>T
ENST00000699827.1:c.1365G>T	ENSP00000514628.1:p.Thr455=
ENST00000699828.1:c.*623G>T	ENSP00000514629.1:n.*623G>T
ENST00000699833.1:n.3305G>T
ENST00000699837.1:c.1128G>T	ENSP00000514635.1:p.Thr376=
ENST00000699838.1:c.*1433G>T	ENSP00000514636.1:n.*1433G>T
ENST00000699839.1:c.1719G>T	ENSP00000514637.1:p.Thr573=
ENST00000699916.1:c.*790G>T	ENSP00000514684.1:n.*790G>T
ENST00000699917.1:c.*982G>T	ENSP00000514685.1:n.*982G>T
ENST00000699918.1:c.*1034G>T	ENSP00000514686.1:n.*1034G>T
ENST00000699919.1:c.*1120G>T	ENSP00000514687.1:n.*1120G>T
ENST00000699920.1:c.*1169G>T	ENSP00000514688.1:n.*1169G>T
ENST00000699928.1:c.989-4241G>T	ENSP00000514693.1:n.989-4241G>T
ENST00000699929.1:c.*834G>T	ENSP00000514694.1:n.*834G>T
ENST00000699930.1:c.1425G>T	ENSP00000514695.1:p.Thr475=
ENST00000699931.1:n.2961G>T
ENST00000699951.1:c.*629G>T	ENSP00000514706.1:n.*629G>T
ENST00000699952.1:c.803+10094G>T	ENSP00000514707.1:n.803+10094G>T
ENST00000699953.1:c.*640G>T	ENSP00000514708.1:n.*640G>T
ENST00000699954.1:c.*834G>T	ENSP00000514709.1:n.*834G>T
ENST00000265849.12:c.1533G>T MANE Select	ENSP00000265849.7:p.Thr511=
ENST00000642292.1:c.1128G>T	ENSP00000495524.1:p.Thr376=
ENST00000642456.1:c.1128G>T	ENSP00000493814.1:p.Thr376=
ENST00000643595.1:c.*932G>T	ENSP00000494497.1:n.*932G>T
ENST00000644110.1:c.1215G>T	ENSP00000496392.1:p.Thr405=
ENST00000265849.11:c.1533G>T	ENSP00000265849.7:p.Thr511=
ENST00000382321.5:c.804-4241G>T	ENSP00000371758.4:n.804-4241G>T
ENST00000406569.7:n.1533G>T
ENST00000441476.6:c.1215G>T	ENSP00000392843.2:p.Thr405=
ENST00000469652.1:n.63-4327G>T
NM_000535.5:c.1533G>T , LRG_161t1:c.1533G>T	NP_000526.1:p.Thr511=
NR_003085.2:n.1615G>T
XM_006715742.2:c.1527G>T	XP_006715805.1:p.Thr509=
XM_006715744.2:c.600G>T	XP_006715807.1:p.Thr200=
XM_011515427.1:c.1578G>T	XP_011513729.1:p.Thr526=
XM_011515428.1:c.1422G>T	XP_011513730.1:p.Thr474=
XM_011515429.1:c.1215G>T	XP_011513731.1:p.Thr405=
XM_011515430.1:c.1215G>T	XP_011513732.1:p.Thr405=
NM_000535.6:c.1533G>T	NP_000526.2:p.Thr511=
NM_001322003.1:c.1128G>T	NP_001308932.1:p.Thr376=
NM_001322004.1:c.1128G>T	NP_001308933.1:p.Thr376=
NM_001322005.1:c.1128G>T	NP_001308934.1:p.Thr376=
NM_001322006.1:c.1377G>T	NP_001308935.1:p.Thr459=
NM_001322007.1:c.1215G>T	NP_001308936.1:p.Thr405=
NM_001322008.1:c.1215G>T	NP_001308937.1:p.Thr405=
NM_001322009.1:c.1128G>T	NP_001308938.1:p.Thr376=
NM_001322010.1:c.972G>T	NP_001308939.1:p.Thr324=
NM_001322011.1:c.600G>T	NP_001308940.1:p.Thr200=
NM_001322012.1:c.600G>T	NP_001308941.1:p.Thr200=
NM_001322013.1:c.960G>T	NP_001308942.1:p.Thr320=
NM_001322014.1:c.1533G>T	NP_001308943.1:p.Thr511=
NM_001322015.1:c.1224G>T	NP_001308944.1:p.Thr408=
NR_136154.1:n.1620G>T
XM_006715744.4:c.600G>T	XP_006715807.1:p.Thr200=
XM_017012342.2:c.600G>T	XP_016867831.1:p.Thr200=
XM_024446800.1:c.972G>T	XP_024302568.1:p.Thr324=
NM_000535.7:c.1533G>T MANE Select	NP_000526.2:p.Thr511=
NM_001322003.2:c.1128G>T	NP_001308932.1:p.Thr376=
NM_001322004.2:c.1128G>T	NP_001308933.1:p.Thr376=
NM_001322005.2:c.1128G>T	NP_001308934.1:p.Thr376=
NM_001322006.2:c.1377G>T	NP_001308935.1:p.Thr459=
NM_001322008.2:c.1215G>T	NP_001308937.1:p.Thr405=
NM_001322009.2:c.1128G>T	NP_001308938.1:p.Thr376=
NM_001322010.2:c.972G>T	NP_001308939.1:p.Thr324=
NM_001322011.2:c.600G>T	NP_001308940.1:p.Thr200=
NM_001322012.2:c.600G>T	NP_001308941.1:p.Thr200=
NM_001322013.2:c.960G>T	NP_001308942.1:p.Thr320=
NM_001322014.2:c.1533G>T	NP_001308943.1:p.Thr511=
NM_001322015.2:c.1224G>T	NP_001308944.1:p.Thr408=
NM_001322007.2:c.1215G>T	NP_001308936.1:p.Thr405=