Canonical Allele Identifier: CA366734705

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2158374
• ClinVar RCV Id: RCV003093521
• gnomAD v4: 7-5973406-T-C
• MyVariant Identifiers: chr7:g.6013037T>C (hg19) ; chr7:g.5973406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973406T>C , CM000669.2:g.5973406T>C	GRCh38
NC_000007.13:g.6013037T>C , CM000669.1:g.6013037T>C	GRCh37
NC_000007.12:g.5979563T>C	NCBI36
NG_008466.1:g.40701A>G , LRG_161:g.40701A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1978A>G	ENSP00000514615.2:n.*1978A>G
ENST00000699840.2:c.2579A>G	ENSP00000514638.2:p.Gln860Arg
ENST00000699930.2:c.2474A>G	ENSP00000514695.2:p.Gln825Arg
ENST00000406569.8:c.1942A>G	ENSP00000514464.1:n.1942A>G
ENST00000644110.2:c.*2176A>G	ENSP00000496392.2:n.*2176A>G
ENST00000699752.1:c.2426A>G	ENSP00000514561.1:p.Gln809Arg
ENST00000699753.1:c.*2003A>G	ENSP00000514562.1:n.*2003A>G
ENST00000699754.1:c.2384A>G	ENSP00000514563.1:p.Gln795Arg
ENST00000699755.1:c.*1981A>G	ENSP00000514564.1:n.*1981A>G
ENST00000699756.1:c.*2169A>G	ENSP00000514565.1:n.*2169A>G
ENST00000699757.1:c.*1839A>G	ENSP00000514566.1:n.*1839A>G
ENST00000699758.1:c.*1839A>G	ENSP00000514567.1:n.*1839A>G
ENST00000699759.1:n.3436A>G
ENST00000699760.1:c.2264A>G	ENSP00000514568.1:p.Gln755Arg
ENST00000699761.1:c.2177A>G	ENSP00000514569.1:p.Gln726Arg
ENST00000699762.1:c.2009A>G	ENSP00000514570.1:p.Gln670Arg
ENST00000699763.1:c.*1672A>G	ENSP00000514571.1:n.*1672A>G
ENST00000699764.1:c.*900A>G	ENSP00000514572.1:n.*900A>G
ENST00000699765.1:c.*1577A>G	ENSP00000514573.1:n.*1577A>G
ENST00000699766.1:c.2615A>G	ENSP00000514574.1:p.Gln872Arg
ENST00000699767.1:c.*223A>G	ENSP00000514575.1:n.*223A>G
ENST00000699768.1:c.2438A>G	ENSP00000514576.1:p.Gln813Arg
ENST00000699811.1:c.2177A>G	ENSP00000514614.1:p.Gln726Arg
ENST00000699813.1:n.2695A>G
ENST00000699814.1:c.2205A>G
ENST00000699815.1:c.*2113A>G	ENSP00000514616.1:n.*2113A>G
ENST00000699816.1:c.*1472A>G	ENSP00000514617.1:n.*1472A>G
ENST00000699817.1:c.*2176A>G	ENSP00000514618.1:n.*2176A>G
ENST00000699818.1:c.2177A>G	ENSP00000514619.1:p.Gln726Arg
ENST00000699819.1:c.*1739A>G	ENSP00000514620.1:n.*1739A>G
ENST00000699820.1:c.*520A>G	ENSP00000514621.1:n.*520A>G
ENST00000699821.1:c.2210A>G	ENSP00000514622.1:p.Gln737Arg
ENST00000699822.1:c.*2034A>G	ENSP00000514623.1:n.*2034A>G
ENST00000699823.1:c.2177A>G	ENSP00000514624.1:p.Gln726Arg
ENST00000699824.1:c.*2085A>G	ENSP00000514625.1:n.*2085A>G
ENST00000699825.1:c.2021A>G	ENSP00000514626.1:p.Gln674Arg
ENST00000699826.1:c.*1981A>G	ENSP00000514627.1:n.*1981A>G
ENST00000699827.1:c.2414A>G	ENSP00000514628.1:p.Gln805Arg
ENST00000699828.1:c.*1672A>G	ENSP00000514629.1:n.*1672A>G
ENST00000699833.1:n.4354A>G
ENST00000699837.1:c.2177A>G	ENSP00000514635.1:p.Gln726Arg
ENST00000699838.1:c.*2482A>G	ENSP00000514636.1:n.*2482A>G
ENST00000699839.1:c.2768A>G	ENSP00000514637.1:p.Gln923Arg
ENST00000699916.1:c.*1839A>G	ENSP00000514684.1:n.*1839A>G
ENST00000699917.1:c.*2031A>G	ENSP00000514685.1:n.*2031A>G
ENST00000699918.1:c.*2083A>G	ENSP00000514686.1:n.*2083A>G
ENST00000699919.1:c.*2169A>G	ENSP00000514687.1:n.*2169A>G
ENST00000699920.1:c.*2218A>G	ENSP00000514688.1:n.*2218A>G
ENST00000699928.1:c.*520A>G	ENSP00000514693.1:n.*520A>G
ENST00000699951.1:c.*1635A>G	ENSP00000514706.1:n.*1635A>G
ENST00000699952.1:c.*136A>G	ENSP00000514707.1:n.*136A>G
ENST00000265849.12:c.2582A>G MANE Select	ENSP00000265849.7:p.Gln861Arg
ENST00000642292.1:c.2177A>G	ENSP00000495524.1:p.Gln726Arg
ENST00000642456.1:c.2177A>G	ENSP00000493814.1:p.Gln726Arg
ENST00000643595.1:c.*1981A>G	ENSP00000494497.1:n.*1981A>G
ENST00000644110.1:c.2264A>G	ENSP00000496392.1:p.Gln755Arg
ENST00000265849.11:c.2582A>G	ENSP00000265849.7:p.Gln861Arg
ENST00000382321.5:c.1379A>G	ENSP00000371758.4:p.Gln460Arg
ENST00000441476.6:c.2264A>G	ENSP00000392843.2:p.Gln755Arg
NM_000535.5:c.2582A>G , LRG_161t1:c.2582A>G	NP_000526.1:p.Gln861Arg
NR_003085.2:n.2664A>G
XM_006715742.2:c.2576A>G	XP_006715805.1:p.Gln859Arg
XM_006715744.2:c.1649A>G	XP_006715807.1:p.Gln550Arg
XM_011515427.1:c.2627A>G	XP_011513729.1:p.Gln876Arg
XM_011515428.1:c.2471A>G	XP_011513730.1:p.Gln824Arg
XM_011515429.1:c.2264A>G	XP_011513731.1:p.Gln755Arg
XM_011515430.1:c.2264A>G	XP_011513732.1:p.Gln755Arg
NM_000535.6:c.2582A>G	NP_000526.2:p.Gln861Arg
NM_001322003.1:c.2177A>G	NP_001308932.1:p.Gln726Arg
NM_001322004.1:c.2177A>G	NP_001308933.1:p.Gln726Arg
NM_001322005.1:c.2177A>G	NP_001308934.1:p.Gln726Arg
NM_001322006.1:c.2426A>G	NP_001308935.1:p.Gln809Arg
NM_001322007.1:c.2264A>G	NP_001308936.1:p.Gln755Arg
NM_001322008.1:c.2264A>G	NP_001308937.1:p.Gln755Arg
NM_001322009.1:c.2210A>G	NP_001308938.1:p.Gln737Arg
NM_001322010.1:c.2021A>G	NP_001308939.1:p.Gln674Arg
NM_001322011.1:c.1649A>G	NP_001308940.1:p.Gln550Arg
NM_001322012.1:c.1649A>G	NP_001308941.1:p.Gln550Arg
NM_001322013.1:c.2009A>G	NP_001308942.1:p.Gln670Arg
NM_001322014.1:c.2615A>G	NP_001308943.1:p.Gln872Arg
NM_001322015.1:c.2273A>G	NP_001308944.1:p.Gln758Arg
NR_136154.1:n.2626A>G
XM_006715744.4:c.1649A>G	XP_006715807.1:p.Gln550Arg
XM_017012342.2:c.1649A>G	XP_016867831.1:p.Gln550Arg
XM_024446800.1:c.2021A>G	XP_024302568.1:p.Gln674Arg
NM_000535.7:c.2582A>G MANE Select	NP_000526.2:p.Gln861Arg
NM_001322003.2:c.2177A>G	NP_001308932.1:p.Gln726Arg
NM_001322004.2:c.2177A>G	NP_001308933.1:p.Gln726Arg
NM_001322005.2:c.2177A>G	NP_001308934.1:p.Gln726Arg
NM_001322006.2:c.2426A>G	NP_001308935.1:p.Gln809Arg
NM_001322008.2:c.2264A>G	NP_001308937.1:p.Gln755Arg
NM_001322009.2:c.2210A>G	NP_001308938.1:p.Gln737Arg
NM_001322010.2:c.2021A>G	NP_001308939.1:p.Gln674Arg
NM_001322011.2:c.1649A>G	NP_001308940.1:p.Gln550Arg
NM_001322012.2:c.1649A>G	NP_001308941.1:p.Gln550Arg
NM_001322013.2:c.2009A>G	NP_001308942.1:p.Gln670Arg
NM_001322014.2:c.2615A>G	NP_001308943.1:p.Gln872Arg
NM_001322015.2:c.2273A>G	NP_001308944.1:p.Gln758Arg
NM_001322007.2:c.2264A>G	NP_001308936.1:p.Gln755Arg