Canonical Allele Identifier: CA366736031

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2058111
• ClinVar RCV Id: RCV002928419 ; RCV003465868
• dbSNP Id: rs2128675160
• gnomAD v4: 7-5977719-T-C
• MyVariant Identifiers: chr7:g.6017350T>C (hg19) ; chr7:g.5977719T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977719T>C , CM000669.2:g.5977719T>C	GRCh38
NC_000007.13:g.6017350T>C , CM000669.1:g.6017350T>C	GRCh37
NC_000007.12:g.5983876T>C	NCBI36
NG_008466.1:g.36388A>G , LRG_161:g.36388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1710A>G	ENSP00000514615.2:n.*1710A>G
ENST00000699840.2:c.2311A>G	ENSP00000514638.2:p.Thr771Ala
ENST00000699930.2:c.2206A>G	ENSP00000514695.2:p.Thr736Ala
ENST00000406569.8:c.1679-5A>G	ENSP00000514464.1:n.1679-5A>G
ENST00000644110.2:c.*1908A>G	ENSP00000496392.2:n.*1908A>G
ENST00000699752.1:c.2158A>G	ENSP00000514561.1:p.Thr720Ala
ENST00000699753.1:c.*1735A>G	ENSP00000514562.1:n.*1735A>G
ENST00000699754.1:c.2116A>G	ENSP00000514563.1:p.Thr706Ala
ENST00000699755.1:c.*1713A>G	ENSP00000514564.1:n.*1713A>G
ENST00000699756.1:c.*1901A>G	ENSP00000514565.1:n.*1901A>G
ENST00000699757.1:c.*1571A>G	ENSP00000514566.1:n.*1571A>G
ENST00000699758.1:c.*1571A>G	ENSP00000514567.1:n.*1571A>G
ENST00000699759.1:n.3168A>G
ENST00000699760.1:c.1996A>G	ENSP00000514568.1:p.Thr666Ala
ENST00000699761.1:c.1909A>G	ENSP00000514569.1:p.Thr637Ala
ENST00000699762.1:c.1741A>G	ENSP00000514570.1:p.Thr581Ala
ENST00000699763.1:c.*1404A>G	ENSP00000514571.1:n.*1404A>G
ENST00000699764.1:c.*632A>G	ENSP00000514572.1:n.*632A>G
ENST00000699765.1:c.*1309A>G	ENSP00000514573.1:n.*1309A>G
ENST00000699766.1:c.2347A>G	ENSP00000514574.1:p.Thr783Ala
ENST00000699767.1:c.2276-5A>G	ENSP00000514575.1:n.2276-5A>G
ENST00000699768.1:c.2175-5A>G	ENSP00000514576.1:n.2175-5A>G
ENST00000699811.1:c.1909A>G	ENSP00000514614.1:p.Thr637Ala
ENST00000699813.1:n.2427A>G
ENST00000699814.1:c.1937A>G
ENST00000699815.1:c.*1845A>G	ENSP00000514616.1:n.*1845A>G
ENST00000699816.1:c.*1204A>G	ENSP00000514617.1:n.*1204A>G
ENST00000699817.1:c.*1908A>G	ENSP00000514618.1:n.*1908A>G
ENST00000699818.1:c.1909A>G	ENSP00000514619.1:p.Thr637Ala
ENST00000699819.1:c.*1471A>G	ENSP00000514620.1:n.*1471A>G
ENST00000699820.1:c.*252A>G	ENSP00000514621.1:n.*252A>G
ENST00000699821.1:c.1942A>G	ENSP00000514622.1:p.Thr648Ala
ENST00000699822.1:c.*1766A>G	ENSP00000514623.1:n.*1766A>G
ENST00000699823.1:c.1909A>G	ENSP00000514624.1:p.Thr637Ala
ENST00000699824.1:c.*1817A>G	ENSP00000514625.1:n.*1817A>G
ENST00000699825.1:c.1753A>G	ENSP00000514626.1:p.Thr585Ala
ENST00000699826.1:c.*1713A>G	ENSP00000514627.1:n.*1713A>G
ENST00000699827.1:c.2146A>G	ENSP00000514628.1:p.Thr716Ala
ENST00000699828.1:c.*1404A>G	ENSP00000514629.1:n.*1404A>G
ENST00000699833.1:n.4086A>G
ENST00000699837.1:c.1909A>G	ENSP00000514635.1:p.Thr637Ala
ENST00000699838.1:c.*2214A>G	ENSP00000514636.1:n.*2214A>G
ENST00000699839.1:c.2500A>G	ENSP00000514637.1:p.Thr834Ala
ENST00000699916.1:c.*1571A>G	ENSP00000514684.1:n.*1571A>G
ENST00000699917.1:c.*1763A>G	ENSP00000514685.1:n.*1763A>G
ENST00000699918.1:c.*1815A>G	ENSP00000514686.1:n.*1815A>G
ENST00000699919.1:c.*1901A>G	ENSP00000514687.1:n.*1901A>G
ENST00000699920.1:c.*1950A>G	ENSP00000514688.1:n.*1950A>G
ENST00000699928.1:c.*252A>G	ENSP00000514693.1:n.*252A>G
ENST00000699951.1:c.*1372-5A>G	ENSP00000514706.1:n.*1372-5A>G
ENST00000699952.1:c.804-4177A>G	ENSP00000514707.1:n.804-4177A>G
ENST00000265849.12:c.2314A>G MANE Select	ENSP00000265849.7:p.Thr772Ala
ENST00000642292.1:c.1909A>G	ENSP00000495524.1:p.Thr637Ala
ENST00000642456.1:c.1909A>G	ENSP00000493814.1:p.Thr637Ala
ENST00000643595.1:c.*1713A>G	ENSP00000494497.1:n.*1713A>G
ENST00000644110.1:c.1996A>G	ENSP00000496392.1:p.Thr666Ala
ENST00000265849.11:c.2314A>G	ENSP00000265849.7:p.Thr772Ala
ENST00000382321.5:c.1111A>G	ENSP00000371758.4:p.Thr371Ala
ENST00000406569.7:n.1679-5A>G
ENST00000441476.6:c.1996A>G	ENSP00000392843.2:p.Thr666Ala
NM_000535.5:c.2314A>G , LRG_161t1:c.2314A>G	NP_000526.1:p.Thr772Ala
NR_003085.2:n.2396A>G
XM_006715742.2:c.2308A>G	XP_006715805.1:p.Thr770Ala
XM_006715744.2:c.1381A>G	XP_006715807.1:p.Thr461Ala
XM_011515427.1:c.2359A>G	XP_011513729.1:p.Thr787Ala
XM_011515428.1:c.2203A>G	XP_011513730.1:p.Thr735Ala
XM_011515429.1:c.1996A>G	XP_011513731.1:p.Thr666Ala
XM_011515430.1:c.1996A>G	XP_011513732.1:p.Thr666Ala
NM_000535.6:c.2314A>G	NP_000526.2:p.Thr772Ala
NM_001322003.1:c.1909A>G	NP_001308932.1:p.Thr637Ala
NM_001322004.1:c.1909A>G	NP_001308933.1:p.Thr637Ala
NM_001322005.1:c.1909A>G	NP_001308934.1:p.Thr637Ala
NM_001322006.1:c.2158A>G	NP_001308935.1:p.Thr720Ala
NM_001322007.1:c.1996A>G	NP_001308936.1:p.Thr666Ala
NM_001322008.1:c.1996A>G	NP_001308937.1:p.Thr666Ala
NM_001322009.1:c.1942A>G	NP_001308938.1:p.Thr648Ala
NM_001322010.1:c.1753A>G	NP_001308939.1:p.Thr585Ala
NM_001322011.1:c.1381A>G	NP_001308940.1:p.Thr461Ala
NM_001322012.1:c.1381A>G	NP_001308941.1:p.Thr461Ala
NM_001322013.1:c.1741A>G	NP_001308942.1:p.Thr581Ala
NM_001322014.1:c.2347A>G	NP_001308943.1:p.Thr783Ala
NM_001322015.1:c.2005A>G	NP_001308944.1:p.Thr669Ala
NR_136154.1:n.2363-5A>G
XM_006715744.4:c.1381A>G	XP_006715807.1:p.Thr461Ala
XM_017012342.2:c.1381A>G	XP_016867831.1:p.Thr461Ala
XM_024446800.1:c.1753A>G	XP_024302568.1:p.Thr585Ala
NM_000535.7:c.2314A>G MANE Select	NP_000526.2:p.Thr772Ala
NM_001322003.2:c.1909A>G	NP_001308932.1:p.Thr637Ala
NM_001322004.2:c.1909A>G	NP_001308933.1:p.Thr637Ala
NM_001322005.2:c.1909A>G	NP_001308934.1:p.Thr637Ala
NM_001322006.2:c.2158A>G	NP_001308935.1:p.Thr720Ala
NM_001322008.2:c.1996A>G	NP_001308937.1:p.Thr666Ala
NM_001322009.2:c.1942A>G	NP_001308938.1:p.Thr648Ala
NM_001322010.2:c.1753A>G	NP_001308939.1:p.Thr585Ala
NM_001322011.2:c.1381A>G	NP_001308940.1:p.Thr461Ala
NM_001322012.2:c.1381A>G	NP_001308941.1:p.Thr461Ala
NM_001322013.2:c.1741A>G	NP_001308942.1:p.Thr581Ala
NM_001322014.2:c.2347A>G	NP_001308943.1:p.Thr783Ala
NM_001322015.2:c.2005A>G	NP_001308944.1:p.Thr669Ala
NM_001322007.2:c.1996A>G	NP_001308936.1:p.Thr666Ala