Canonical Allele Identifier: CA645372834

Gene: PMS2

Linked Data

• ClinVar Variation Id: 434031
• ClinVar RCV Id: RCV000501618
• dbSNP Id: rs1554292684
• MyVariant Identifiers: chr7:g.6013030_6013173del (hg19) ; chr7:g.5973399_5973542del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973399_5973542del , CM000669.2:g.5973399_5973542del	GRCh38
NC_000007.13:g.6013030_6013173del , CM000669.1:g.6013030_6013173del	GRCh37
NC_000007.12:g.5979556_5979699del	NCBI36
NG_008466.1:g.40565_40708del , LRG_161:g.40565_40708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1842_*1985del	ENSP00000514615.2:n.*1842_*1985del
ENST00000699840.2:c.2443_2586del	ENSP00000514638.2:p.Val815_Ter862del
ENST00000699930.2:c.2338_2481del	ENSP00000514695.2:p.Val780_Ter827del
ENST00000406569.8:c.1806_1949del	ENSP00000514464.1:n.1806_1949del
ENST00000644110.2:c.*2040_*2183del	ENSP00000496392.2:n.*2040_*2183del
ENST00000699752.1:c.2290_2433del	ENSP00000514561.1:p.Val764_Ter811del
ENST00000699753.1:c.*1867_*2010del	ENSP00000514562.1:n.*1867_*2010del
ENST00000699754.1:c.2248_2391del	ENSP00000514563.1:p.Val750_Ter797del
ENST00000699755.1:c.*1845_*1988del	ENSP00000514564.1:n.*1845_*1988del
ENST00000699756.1:c.*2033_*2176del	ENSP00000514565.1:n.*2033_*2176del
ENST00000699757.1:c.*1703_*1846del	ENSP00000514566.1:n.*1703_*1846del
ENST00000699758.1:c.*1703_*1846del	ENSP00000514567.1:n.*1703_*1846del
ENST00000699759.1:n.3300_3443del
ENST00000699760.1:c.2128_2271del	ENSP00000514568.1:p.Val710_Ter757del
ENST00000699761.1:c.2041_2184del	ENSP00000514569.1:p.Val681_Ter728del
ENST00000699762.1:c.1873_2016del	ENSP00000514570.1:p.Val625_Ter672del
ENST00000699763.1:c.*1536_*1679del	ENSP00000514571.1:n.*1536_*1679del
ENST00000699764.1:c.*764_*907del	ENSP00000514572.1:n.*764_*907del
ENST00000699765.1:c.*1441_*1584del	ENSP00000514573.1:n.*1441_*1584del
ENST00000699766.1:c.2479_2622del	ENSP00000514574.1:p.Val827_Ter874del
ENST00000699767.1:c.*87_*230del	ENSP00000514575.1:n.*87_*230del
ENST00000699768.1:c.2302_2445del	ENSP00000514576.1:p.Val768_Ter815del
ENST00000699811.1:c.2041_2184del	ENSP00000514614.1:p.Val681_Ter728del
ENST00000699813.1:n.2559_2702del
ENST00000699814.1:c.2069_2212del
ENST00000699815.1:c.*1977_*2120del	ENSP00000514616.1:n.*1977_*2120del
ENST00000699816.1:c.*1336_*1479del	ENSP00000514617.1:n.*1336_*1479del
ENST00000699817.1:c.*2040_*2183del	ENSP00000514618.1:n.*2040_*2183del
ENST00000699818.1:c.2041_2184del	ENSP00000514619.1:p.Val681_Ter728del
ENST00000699819.1:c.*1603_*1746del	ENSP00000514620.1:n.*1603_*1746del
ENST00000699820.1:c.*384_*527del	ENSP00000514621.1:n.*384_*527del
ENST00000699821.1:c.2074_2217del	ENSP00000514622.1:p.Val692_Ter739del
ENST00000699822.1:c.*1898_*2041del	ENSP00000514623.1:n.*1898_*2041del
ENST00000699823.1:c.2041_2184del	ENSP00000514624.1:p.Val681_Ter728del
ENST00000699824.1:c.*1949_*2092del	ENSP00000514625.1:n.*1949_*2092del
ENST00000699825.1:c.1885_2028del	ENSP00000514626.1:p.Val629_Ter676del
ENST00000699826.1:c.*1845_*1988del	ENSP00000514627.1:n.*1845_*1988del
ENST00000699827.1:c.2278_2421del	ENSP00000514628.1:p.Val760_Ter807del
ENST00000699828.1:c.*1536_*1679del	ENSP00000514629.1:n.*1536_*1679del
ENST00000699833.1:n.4218_4361del
ENST00000699837.1:c.2041_2184del	ENSP00000514635.1:p.Val681_Ter728del
ENST00000699838.1:c.*2346_*2489del	ENSP00000514636.1:n.*2346_*2489del
ENST00000699839.1:c.2632_2775del	ENSP00000514637.1:p.Val878_Ter925del
ENST00000699916.1:c.*1703_*1846del	ENSP00000514684.1:n.*1703_*1846del
ENST00000699917.1:c.*1895_*2038del	ENSP00000514685.1:n.*1895_*2038del
ENST00000699918.1:c.*1947_*2090del	ENSP00000514686.1:n.*1947_*2090del
ENST00000699919.1:c.*2033_*2176del	ENSP00000514687.1:n.*2033_*2176del
ENST00000699920.1:c.*2082_*2225del	ENSP00000514688.1:n.*2082_*2225del
ENST00000699928.1:c.*384_*527del	ENSP00000514693.1:n.*384_*527del
ENST00000699951.1:c.*1499_*1642del	ENSP00000514706.1:n.*1499_*1642del
ENST00000699952.1:c.804_*143del	ENSP00000514707.1:n.[c.804_*143del;Ter268TyrextTer8]
ENST00000265849.12:c.2446_2589del MANE Select	ENSP00000265849.7:p.Val816_Ter863del
ENST00000642292.1:c.2041_2184del	ENSP00000495524.1:p.Val681_Ter728del
ENST00000642456.1:c.2041_2184del	ENSP00000493814.1:p.Val681_Ter728del
ENST00000643595.1:c.*1845_*1988del	ENSP00000494497.1:n.*1845_*1988del
ENST00000644110.1:c.2128_2271del	ENSP00000496392.1:p.Val710_Ter757del
ENST00000265849.11:c.2446_2589del	ENSP00000265849.7:p.Val816_Ter863del
ENST00000382321.5:c.1243_1386del	ENSP00000371758.4:p.Val415_Ter462del
ENST00000441476.6:c.2128_2271del	ENSP00000392843.2:p.Val710_Ter757del
NM_000535.5:c.2446_2589del , LRG_161t1:c.2446_2589del	NP_000526.1:p.Val816_Ter863del
NR_003085.2:n.2528_2671del
XM_006715742.2:c.2440_2583del	XP_006715805.1:p.Val814_Ter861del
XM_006715744.2:c.1513_1656del	XP_006715807.1:p.Val505_Ter552del
XM_011515427.1:c.2491_2634del	XP_011513729.1:p.Val831_Ter878del
XM_011515428.1:c.2335_2478del	XP_011513730.1:p.Val779_Ter826del
XM_011515429.1:c.2128_2271del	XP_011513731.1:p.Val710_Ter757del
XM_011515430.1:c.2128_2271del	XP_011513732.1:p.Val710_Ter757del
NM_000535.6:c.2446_2589del	NP_000526.2:p.Val816_Ter863del
NM_001322003.1:c.2041_2184del	NP_001308932.1:p.Val681_Ter728del
NM_001322004.1:c.2041_2184del	NP_001308933.1:p.Val681_Ter728del
NM_001322005.1:c.2041_2184del	NP_001308934.1:p.Val681_Ter728del
NM_001322006.1:c.2290_2433del	NP_001308935.1:p.Val764_Ter811del
NM_001322007.1:c.2128_2271del	NP_001308936.1:p.Val710_Ter757del
NM_001322008.1:c.2128_2271del	NP_001308937.1:p.Val710_Ter757del
NM_001322009.1:c.2074_2217del	NP_001308938.1:p.Val692_Ter739del
NM_001322010.1:c.1885_2028del	NP_001308939.1:p.Val629_Ter676del
NM_001322011.1:c.1513_1656del	NP_001308940.1:p.Val505_Ter552del
NM_001322012.1:c.1513_1656del	NP_001308941.1:p.Val505_Ter552del
NM_001322013.1:c.1873_2016del	NP_001308942.1:p.Val625_Ter672del
NM_001322014.1:c.2479_2622del	NP_001308943.1:p.Val827_Ter874del
NM_001322015.1:c.2137_2280del	NP_001308944.1:p.Val713_Ter760del
NR_136154.1:n.2490_2633del
XM_006715744.4:c.1513_1656del	XP_006715807.1:p.Val505_Ter552del
XM_017012342.2:c.1513_1656del	XP_016867831.1:p.Val505_Ter552del
XM_024446800.1:c.1885_2028del	XP_024302568.1:p.Val629_Ter676del
NM_000535.7:c.2446_2589del MANE Select	NP_000526.2:p.Val816_Ter863del
NM_001322003.2:c.2041_2184del	NP_001308932.1:p.Val681_Ter728del
NM_001322004.2:c.2041_2184del	NP_001308933.1:p.Val681_Ter728del
NM_001322005.2:c.2041_2184del	NP_001308934.1:p.Val681_Ter728del
NM_001322006.2:c.2290_2433del	NP_001308935.1:p.Val764_Ter811del
NM_001322008.2:c.2128_2271del	NP_001308937.1:p.Val710_Ter757del
NM_001322009.2:c.2074_2217del	NP_001308938.1:p.Val692_Ter739del
NM_001322010.2:c.1885_2028del	NP_001308939.1:p.Val629_Ter676del
NM_001322011.2:c.1513_1656del	NP_001308940.1:p.Val505_Ter552del
NM_001322012.2:c.1513_1656del	NP_001308941.1:p.Val505_Ter552del
NM_001322013.2:c.1873_2016del	NP_001308942.1:p.Val625_Ter672del
NM_001322014.2:c.2479_2622del	NP_001308943.1:p.Val827_Ter874del
NM_001322015.2:c.2137_2280del	NP_001308944.1:p.Val713_Ter760del
NM_001322007.2:c.2128_2271del	NP_001308936.1:p.Val710_Ter757del