Canonical Allele Identifier: CA009346

Gene: PMS2

Linked Data

• ClinVar Variation Id: 9235
• ClinVar RCV Id: RCV002228025 ; RCV003298029
• dbSNP Id: rs587776715
• MyVariant Identifiers: chr7:g.6027175del (hg19) ; chr7:g.5987544del (hg38)
• PubMed: PMID:10763829

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987545del , CM000669.2:g.5987545del	GRCh38
NC_000007.13:g.6027176del , CM000669.1:g.6027176del	GRCh37
NC_000007.12:g.5993702del	NCBI36
NG_008466.1:g.26563del , LRG_161:g.26563del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*617del	ENSP00000514615.2:n.*617del
ENST00000699840.2:c.1218del	ENSP00000514638.2:p.Thr407LeufsTer?
ENST00000699930.2:c.1113del	ENSP00000514695.2:p.Thr372LeufsTer?
ENST00000406569.8:c.1221del	ENSP00000514464.1:p.Thr408LeufsTer?
ENST00000644110.2:c.*815del	ENSP00000496392.2:n.*815del
ENST00000699752.1:c.1065del	ENSP00000514561.1:p.Thr356LeufsTer?
ENST00000699753.1:c.*642del	ENSP00000514562.1:n.*642del
ENST00000699754.1:c.1023del	ENSP00000514563.1:p.Thr342LeufsTer?
ENST00000699755.1:c.*620del	ENSP00000514564.1:n.*620del
ENST00000699756.1:c.*808del	ENSP00000514565.1:n.*808del
ENST00000699757.1:c.*478del	ENSP00000514566.1:n.*478del
ENST00000699758.1:c.*478del	ENSP00000514567.1:n.*478del
ENST00000699759.1:n.2075del
ENST00000699760.1:c.903del	ENSP00000514568.1:p.Thr302LeufsTer?
ENST00000699761.1:c.816del	ENSP00000514569.1:p.Thr273LeufsTer?
ENST00000699762.1:c.648del	ENSP00000514570.1:p.Thr217LeufsTer?
ENST00000699763.1:c.*311del	ENSP00000514571.1:n.*311del
ENST00000699764.1:c.1221del	ENSP00000514572.1:p.Thr408LeufsTer?
ENST00000699765.1:c.*317del	ENSP00000514573.1:n.*317del
ENST00000699766.1:c.1221del	ENSP00000514574.1:p.Thr408LeufsTer?
ENST00000699767.1:c.1221del	ENSP00000514575.1:p.Thr408LeufsTer?
ENST00000699768.1:c.1221del	ENSP00000514576.1:p.Thr408LeufsTer?
ENST00000699811.1:c.816del	ENSP00000514614.1:p.Thr273LeufsTer?
ENST00000699813.1:n.1334del
ENST00000699814.1:c.844del
ENST00000699815.1:c.*752del	ENSP00000514616.1:n.*752del
ENST00000699816.1:c.*111del	ENSP00000514617.1:n.*111del
ENST00000699817.1:c.*815del	ENSP00000514618.1:n.*815del
ENST00000699818.1:c.816del	ENSP00000514619.1:p.Thr273LeufsTer?
ENST00000699819.1:c.*378del	ENSP00000514620.1:n.*378del
ENST00000699820.1:c.1144+2256del	ENSP00000514621.1:n.1144+2256del
ENST00000699821.1:c.816del	ENSP00000514622.1:p.Thr273LeufsTer?
ENST00000699822.1:c.*673del	ENSP00000514623.1:n.*673del
ENST00000699823.1:c.816del	ENSP00000514624.1:p.Thr273LeufsTer?
ENST00000699824.1:c.*724del	ENSP00000514625.1:n.*724del
ENST00000699825.1:c.660del	ENSP00000514626.1:p.Thr221LeufsTer?
ENST00000699826.1:c.*620del	ENSP00000514627.1:n.*620del
ENST00000699827.1:c.1053del	ENSP00000514628.1:p.Thr352LeufsTer?
ENST00000699828.1:c.*311del	ENSP00000514629.1:n.*311del
ENST00000699829.1:c.*722del	ENSP00000514630.1:n.*722del
ENST00000699830.1:c.*620del	ENSP00000514631.1:n.*620del
ENST00000699833.1:n.2993del
ENST00000699837.1:c.816del	ENSP00000514635.1:p.Thr273LeufsTer?
ENST00000699838.1:c.*1121del	ENSP00000514636.1:n.*1121del
ENST00000699839.1:c.1407del	ENSP00000514637.1:p.Thr470LeufsTer?
ENST00000699840.1:c.1218del	ENSP00000514638.1:p.Thr407LeufsTer?
ENST00000699916.1:c.*478del	ENSP00000514684.1:n.*478del
ENST00000699917.1:c.*670del	ENSP00000514685.1:n.*670del
ENST00000699918.1:c.*722del	ENSP00000514686.1:n.*722del
ENST00000699919.1:c.*808del	ENSP00000514687.1:n.*808del
ENST00000699920.1:c.*857del	ENSP00000514688.1:n.*857del
ENST00000699928.1:c.988+4429del	ENSP00000514693.1:n.988+4429del
ENST00000699929.1:c.*522del	ENSP00000514694.1:n.*522del
ENST00000699930.1:c.1113del	ENSP00000514695.1:p.Thr372LeufsTer?
ENST00000699931.1:n.2649del
ENST00000699932.1:c.*439del	ENSP00000514696.1:n.*439del
ENST00000699951.1:c.*317del	ENSP00000514706.1:n.*317del
ENST00000699952.1:c.803+9782del	ENSP00000514707.1:n.803+9782del
ENST00000699953.1:c.*328del	ENSP00000514708.1:n.*328del
ENST00000699954.1:c.*522del	ENSP00000514709.1:n.*522del
ENST00000265849.12:c.1221del MANE Select	ENSP00000265849.7:p.Thr408LeufsTer?
ENST00000642292.1:c.816del	ENSP00000495524.1:p.Thr273LeufsTer?
ENST00000642456.1:c.816del	ENSP00000493814.1:p.Thr273LeufsTer?
ENST00000643595.1:c.*620del	ENSP00000494497.1:n.*620del
ENST00000644110.1:c.903del	ENSP00000496392.1:p.Thr302LeufsTer?
ENST00000265849.11:c.1221del	ENSP00000265849.7:p.Thr408LeufsTer?
ENST00000382321.5:c.804-4553del	ENSP00000371758.4:n.804-4553del
ENST00000406569.7:n.1221del
ENST00000441476.6:c.903del	ENSP00000392843.2:p.Thr302LeufsTer?
ENST00000469652.1:n.63-4639del
NM_000535.5:c.1221del , LRG_161t1:c.1221del	NP_000526.1:p.Thr408LeufsTer?
NR_003085.2:n.1303del
XM_006715742.2:c.1215del	XP_006715805.1:p.Thr406LeufsTer?
XM_006715744.2:c.288del	XP_006715807.1:p.Thr97LeufsTer?
XM_011515427.1:c.1266del	XP_011513729.1:p.Thr423LeufsTer?
XM_011515428.1:c.1110del	XP_011513730.1:p.Thr371LeufsTer?
XM_011515429.1:c.903del	XP_011513731.1:p.Thr302LeufsTer?
XM_011515430.1:c.903del	XP_011513732.1:p.Thr302LeufsTer?
NM_000535.6:c.1221del	NP_000526.2:p.Thr408LeufsTer?
NM_001322003.1:c.816del	NP_001308932.1:p.Thr273LeufsTer?
NM_001322004.1:c.816del	NP_001308933.1:p.Thr273LeufsTer?
NM_001322005.1:c.816del	NP_001308934.1:p.Thr273LeufsTer?
NM_001322006.1:c.1065del	NP_001308935.1:p.Thr356LeufsTer?
NM_001322007.1:c.903del	NP_001308936.1:p.Thr302LeufsTer?
NM_001322008.1:c.903del	NP_001308937.1:p.Thr302LeufsTer?
NM_001322009.1:c.816del	NP_001308938.1:p.Thr273LeufsTer?
NM_001322010.1:c.660del	NP_001308939.1:p.Thr221LeufsTer?
NM_001322011.1:c.288del	NP_001308940.1:p.Thr97LeufsTer?
NM_001322012.1:c.288del	NP_001308941.1:p.Thr97LeufsTer?
NM_001322013.1:c.648del	NP_001308942.1:p.Thr217LeufsTer?
NM_001322014.1:c.1221del	NP_001308943.1:p.Thr408LeufsTer?
NM_001322015.1:c.912del	NP_001308944.1:p.Thr305LeufsTer?
NR_136154.1:n.1308del
XM_006715744.4:c.288del	XP_006715807.1:p.Thr97LeufsTer?
XM_017012342.2:c.288del	XP_016867831.1:p.Thr97LeufsTer?
XM_024446800.1:c.660del	XP_024302568.1:p.Thr221LeufsTer?
NM_000535.7:c.1221del MANE Select	NP_000526.2:p.Thr408LeufsTer?
NM_001322003.2:c.816del	NP_001308932.1:p.Thr273LeufsTer?
NM_001322004.2:c.816del	NP_001308933.1:p.Thr273LeufsTer?
NM_001322005.2:c.816del	NP_001308934.1:p.Thr273LeufsTer?
NM_001322006.2:c.1065del	NP_001308935.1:p.Thr356LeufsTer?
NM_001322008.2:c.903del	NP_001308937.1:p.Thr302LeufsTer?
NM_001322009.2:c.816del	NP_001308938.1:p.Thr273LeufsTer?
NM_001322010.2:c.660del	NP_001308939.1:p.Thr221LeufsTer?
NM_001322011.2:c.288del	NP_001308940.1:p.Thr97LeufsTer?
NM_001322012.2:c.288del	NP_001308941.1:p.Thr97LeufsTer?
NM_001322013.2:c.648del	NP_001308942.1:p.Thr217LeufsTer?
NM_001322014.2:c.1221del	NP_001308943.1:p.Thr408LeufsTer?
NM_001322015.2:c.912del	NP_001308944.1:p.Thr305LeufsTer?
NM_001322007.2:c.903del	NP_001308936.1:p.Thr302LeufsTer?