Canonical Allele Identifier: CA366734820

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2178657
• ClinVar RCV Id: RCV002591486
• MyVariant Identifiers: chr7:g.6013071T>C (hg19) ; chr7:g.5973440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973440T>C , CM000669.2:g.5973440T>C	GRCh38
NC_000007.13:g.6013071T>C , CM000669.1:g.6013071T>C	GRCh37
NC_000007.12:g.5979597T>C	NCBI36
NG_008466.1:g.40667A>G , LRG_161:g.40667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1944A>G	ENSP00000514615.2:n.*1944A>G
ENST00000699840.2:c.2545A>G	ENSP00000514638.2:p.Met849Val
ENST00000699930.2:c.2440A>G	ENSP00000514695.2:p.Met814Val
ENST00000406569.8:c.1908A>G	ENSP00000514464.1:n.1908A>G
ENST00000644110.2:c.*2142A>G	ENSP00000496392.2:n.*2142A>G
ENST00000699752.1:c.2392A>G	ENSP00000514561.1:p.Met798Val
ENST00000699753.1:c.*1969A>G	ENSP00000514562.1:n.*1969A>G
ENST00000699754.1:c.2350A>G	ENSP00000514563.1:p.Met784Val
ENST00000699755.1:c.*1947A>G	ENSP00000514564.1:n.*1947A>G
ENST00000699756.1:c.*2135A>G	ENSP00000514565.1:n.*2135A>G
ENST00000699757.1:c.*1805A>G	ENSP00000514566.1:n.*1805A>G
ENST00000699758.1:c.*1805A>G	ENSP00000514567.1:n.*1805A>G
ENST00000699759.1:n.3402A>G
ENST00000699760.1:c.2230A>G	ENSP00000514568.1:p.Met744Val
ENST00000699761.1:c.2143A>G	ENSP00000514569.1:p.Met715Val
ENST00000699762.1:c.1975A>G	ENSP00000514570.1:p.Met659Val
ENST00000699763.1:c.*1638A>G	ENSP00000514571.1:n.*1638A>G
ENST00000699764.1:c.*866A>G	ENSP00000514572.1:n.*866A>G
ENST00000699765.1:c.*1543A>G	ENSP00000514573.1:n.*1543A>G
ENST00000699766.1:c.2581A>G	ENSP00000514574.1:p.Met861Val
ENST00000699767.1:c.*189A>G	ENSP00000514575.1:n.*189A>G
ENST00000699768.1:c.2404A>G	ENSP00000514576.1:p.Met802Val
ENST00000699811.1:c.2143A>G	ENSP00000514614.1:p.Met715Val
ENST00000699813.1:n.2661A>G
ENST00000699814.1:c.2171A>G
ENST00000699815.1:c.*2079A>G	ENSP00000514616.1:n.*2079A>G
ENST00000699816.1:c.*1438A>G	ENSP00000514617.1:n.*1438A>G
ENST00000699817.1:c.*2142A>G	ENSP00000514618.1:n.*2142A>G
ENST00000699818.1:c.2143A>G	ENSP00000514619.1:p.Met715Val
ENST00000699819.1:c.*1705A>G	ENSP00000514620.1:n.*1705A>G
ENST00000699820.1:c.*486A>G	ENSP00000514621.1:n.*486A>G
ENST00000699821.1:c.2176A>G	ENSP00000514622.1:p.Met726Val
ENST00000699822.1:c.*2000A>G	ENSP00000514623.1:n.*2000A>G
ENST00000699823.1:c.2143A>G	ENSP00000514624.1:p.Met715Val
ENST00000699824.1:c.*2051A>G	ENSP00000514625.1:n.*2051A>G
ENST00000699825.1:c.1987A>G	ENSP00000514626.1:p.Met663Val
ENST00000699826.1:c.*1947A>G	ENSP00000514627.1:n.*1947A>G
ENST00000699827.1:c.2380A>G	ENSP00000514628.1:p.Met794Val
ENST00000699828.1:c.*1638A>G	ENSP00000514629.1:n.*1638A>G
ENST00000699833.1:n.4320A>G
ENST00000699837.1:c.2143A>G	ENSP00000514635.1:p.Met715Val
ENST00000699838.1:c.*2448A>G	ENSP00000514636.1:n.*2448A>G
ENST00000699839.1:c.2734A>G	ENSP00000514637.1:p.Met912Val
ENST00000699916.1:c.*1805A>G	ENSP00000514684.1:n.*1805A>G
ENST00000699917.1:c.*1997A>G	ENSP00000514685.1:n.*1997A>G
ENST00000699918.1:c.*2049A>G	ENSP00000514686.1:n.*2049A>G
ENST00000699919.1:c.*2135A>G	ENSP00000514687.1:n.*2135A>G
ENST00000699920.1:c.*2184A>G	ENSP00000514688.1:n.*2184A>G
ENST00000699928.1:c.*486A>G	ENSP00000514693.1:n.*486A>G
ENST00000699951.1:c.*1601A>G	ENSP00000514706.1:n.*1601A>G
ENST00000699952.1:c.*102A>G	ENSP00000514707.1:n.*102A>G
ENST00000265849.12:c.2548A>G MANE Select	ENSP00000265849.7:p.Met850Val
ENST00000642292.1:c.2143A>G	ENSP00000495524.1:p.Met715Val
ENST00000642456.1:c.2143A>G	ENSP00000493814.1:p.Met715Val
ENST00000643595.1:c.*1947A>G	ENSP00000494497.1:n.*1947A>G
ENST00000644110.1:c.2230A>G	ENSP00000496392.1:p.Met744Val
ENST00000265849.11:c.2548A>G	ENSP00000265849.7:p.Met850Val
ENST00000382321.5:c.1345A>G	ENSP00000371758.4:p.Met449Val
ENST00000441476.6:c.2230A>G	ENSP00000392843.2:p.Met744Val
NM_000535.5:c.2548A>G , LRG_161t1:c.2548A>G	NP_000526.1:p.Met850Val
NR_003085.2:n.2630A>G
XM_006715742.2:c.2542A>G	XP_006715805.1:p.Met848Val
XM_006715744.2:c.1615A>G	XP_006715807.1:p.Met539Val
XM_011515427.1:c.2593A>G	XP_011513729.1:p.Met865Val
XM_011515428.1:c.2437A>G	XP_011513730.1:p.Met813Val
XM_011515429.1:c.2230A>G	XP_011513731.1:p.Met744Val
XM_011515430.1:c.2230A>G	XP_011513732.1:p.Met744Val
NM_000535.6:c.2548A>G	NP_000526.2:p.Met850Val
NM_001322003.1:c.2143A>G	NP_001308932.1:p.Met715Val
NM_001322004.1:c.2143A>G	NP_001308933.1:p.Met715Val
NM_001322005.1:c.2143A>G	NP_001308934.1:p.Met715Val
NM_001322006.1:c.2392A>G	NP_001308935.1:p.Met798Val
NM_001322007.1:c.2230A>G	NP_001308936.1:p.Met744Val
NM_001322008.1:c.2230A>G	NP_001308937.1:p.Met744Val
NM_001322009.1:c.2176A>G	NP_001308938.1:p.Met726Val
NM_001322010.1:c.1987A>G	NP_001308939.1:p.Met663Val
NM_001322011.1:c.1615A>G	NP_001308940.1:p.Met539Val
NM_001322012.1:c.1615A>G	NP_001308941.1:p.Met539Val
NM_001322013.1:c.1975A>G	NP_001308942.1:p.Met659Val
NM_001322014.1:c.2581A>G	NP_001308943.1:p.Met861Val
NM_001322015.1:c.2239A>G	NP_001308944.1:p.Met747Val
NR_136154.1:n.2592A>G
XM_006715744.4:c.1615A>G	XP_006715807.1:p.Met539Val
XM_017012342.2:c.1615A>G	XP_016867831.1:p.Met539Val
XM_024446800.1:c.1987A>G	XP_024302568.1:p.Met663Val
NM_000535.7:c.2548A>G MANE Select	NP_000526.2:p.Met850Val
NM_001322003.2:c.2143A>G	NP_001308932.1:p.Met715Val
NM_001322004.2:c.2143A>G	NP_001308933.1:p.Met715Val
NM_001322005.2:c.2143A>G	NP_001308934.1:p.Met715Val
NM_001322006.2:c.2392A>G	NP_001308935.1:p.Met798Val
NM_001322008.2:c.2230A>G	NP_001308937.1:p.Met744Val
NM_001322009.2:c.2176A>G	NP_001308938.1:p.Met726Val
NM_001322010.2:c.1987A>G	NP_001308939.1:p.Met663Val
NM_001322011.2:c.1615A>G	NP_001308940.1:p.Met539Val
NM_001322012.2:c.1615A>G	NP_001308941.1:p.Met539Val
NM_001322013.2:c.1975A>G	NP_001308942.1:p.Met659Val
NM_001322014.2:c.2581A>G	NP_001308943.1:p.Met861Val
NM_001322015.2:c.2239A>G	NP_001308944.1:p.Met747Val
NM_001322007.2:c.2230A>G	NP_001308936.1:p.Met744Val