Canonical Allele Identifier: CA011227

Gene: PMS2

Linked Data

• ClinVar Variation Id: 141094
• ClinVar RCV Id: RCV000129453 ; RCV000461322 ; RCV000781742
• dbSNP Id: rs587781489
• gnomAD v4: 7-5977716-T-C
• MyVariant Identifiers: chr7:g.6017347T>C (hg19) ; chr7:g.5977716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977716T>C , CM000669.2:g.5977716T>C	GRCh38
NC_000007.13:g.6017347T>C , CM000669.1:g.6017347T>C	GRCh37
NC_000007.12:g.5983873T>C	NCBI36
NG_008466.1:g.36391A>G , LRG_161:g.36391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1713A>G	ENSP00000514615.2:n.*1713A>G
ENST00000699840.2:c.2314A>G	ENSP00000514638.2:p.Ser772Gly
ENST00000699930.2:c.2209A>G	ENSP00000514695.2:p.Ser737Gly
ENST00000406569.8:c.1679-2A>G	ENSP00000514464.1:n.1679-2A>G
ENST00000644110.2:c.*1911A>G	ENSP00000496392.2:n.*1911A>G
ENST00000699752.1:c.2161A>G	ENSP00000514561.1:p.Ser721Gly
ENST00000699753.1:c.*1738A>G	ENSP00000514562.1:n.*1738A>G
ENST00000699754.1:c.2119A>G	ENSP00000514563.1:p.Ser707Gly
ENST00000699755.1:c.*1716A>G	ENSP00000514564.1:n.*1716A>G
ENST00000699756.1:c.*1904A>G	ENSP00000514565.1:n.*1904A>G
ENST00000699757.1:c.*1574A>G	ENSP00000514566.1:n.*1574A>G
ENST00000699758.1:c.*1574A>G	ENSP00000514567.1:n.*1574A>G
ENST00000699759.1:n.3171A>G
ENST00000699760.1:c.1999A>G	ENSP00000514568.1:p.Ser667Gly
ENST00000699761.1:c.1912A>G	ENSP00000514569.1:p.Ser638Gly
ENST00000699762.1:c.1744A>G	ENSP00000514570.1:p.Ser582Gly
ENST00000699763.1:c.*1407A>G	ENSP00000514571.1:n.*1407A>G
ENST00000699764.1:c.*635A>G	ENSP00000514572.1:n.*635A>G
ENST00000699765.1:c.*1312A>G	ENSP00000514573.1:n.*1312A>G
ENST00000699766.1:c.2350A>G	ENSP00000514574.1:p.Ser784Gly
ENST00000699767.1:c.2276-2A>G	ENSP00000514575.1:n.2276-2A>G
ENST00000699768.1:c.2175-2A>G	ENSP00000514576.1:n.2175-2A>G
ENST00000699811.1:c.1912A>G	ENSP00000514614.1:p.Ser638Gly
ENST00000699813.1:n.2430A>G
ENST00000699814.1:c.1940A>G
ENST00000699815.1:c.*1848A>G	ENSP00000514616.1:n.*1848A>G
ENST00000699816.1:c.*1207A>G	ENSP00000514617.1:n.*1207A>G
ENST00000699817.1:c.*1911A>G	ENSP00000514618.1:n.*1911A>G
ENST00000699818.1:c.1912A>G	ENSP00000514619.1:p.Ser638Gly
ENST00000699819.1:c.*1474A>G	ENSP00000514620.1:n.*1474A>G
ENST00000699820.1:c.*255A>G	ENSP00000514621.1:n.*255A>G
ENST00000699821.1:c.1945A>G	ENSP00000514622.1:p.Ser649Gly
ENST00000699822.1:c.*1769A>G	ENSP00000514623.1:n.*1769A>G
ENST00000699823.1:c.1912A>G	ENSP00000514624.1:p.Ser638Gly
ENST00000699824.1:c.*1820A>G	ENSP00000514625.1:n.*1820A>G
ENST00000699825.1:c.1756A>G	ENSP00000514626.1:p.Ser586Gly
ENST00000699826.1:c.*1716A>G	ENSP00000514627.1:n.*1716A>G
ENST00000699827.1:c.2149A>G	ENSP00000514628.1:p.Ser717Gly
ENST00000699828.1:c.*1407A>G	ENSP00000514629.1:n.*1407A>G
ENST00000699833.1:n.4089A>G
ENST00000699837.1:c.1912A>G	ENSP00000514635.1:p.Ser638Gly
ENST00000699838.1:c.*2217A>G	ENSP00000514636.1:n.*2217A>G
ENST00000699839.1:c.2503A>G	ENSP00000514637.1:p.Ser835Gly
ENST00000699916.1:c.*1574A>G	ENSP00000514684.1:n.*1574A>G
ENST00000699917.1:c.*1766A>G	ENSP00000514685.1:n.*1766A>G
ENST00000699918.1:c.*1818A>G	ENSP00000514686.1:n.*1818A>G
ENST00000699919.1:c.*1904A>G	ENSP00000514687.1:n.*1904A>G
ENST00000699920.1:c.*1953A>G	ENSP00000514688.1:n.*1953A>G
ENST00000699928.1:c.*255A>G	ENSP00000514693.1:n.*255A>G
ENST00000699951.1:c.*1372-2A>G	ENSP00000514706.1:n.*1372-2A>G
ENST00000699952.1:c.804-4174A>G	ENSP00000514707.1:n.804-4174A>G
ENST00000265849.12:c.2317A>G MANE Select	ENSP00000265849.7:p.Ser773Gly
ENST00000642292.1:c.1912A>G	ENSP00000495524.1:p.Ser638Gly
ENST00000642456.1:c.1912A>G	ENSP00000493814.1:p.Ser638Gly
ENST00000643595.1:c.*1716A>G	ENSP00000494497.1:n.*1716A>G
ENST00000644110.1:c.1999A>G	ENSP00000496392.1:p.Ser667Gly
ENST00000265849.11:c.2317A>G	ENSP00000265849.7:p.Ser773Gly
ENST00000382321.5:c.1114A>G	ENSP00000371758.4:p.Ser372Gly
ENST00000406569.7:n.1679-2A>G
ENST00000441476.6:c.1999A>G	ENSP00000392843.2:p.Ser667Gly
NM_000535.5:c.2317A>G , LRG_161t1:c.2317A>G	NP_000526.1:p.Ser773Gly
NR_003085.2:n.2399A>G
XM_006715742.2:c.2311A>G	XP_006715805.1:p.Ser771Gly
XM_006715744.2:c.1384A>G	XP_006715807.1:p.Ser462Gly
XM_011515427.1:c.2362A>G	XP_011513729.1:p.Ser788Gly
XM_011515428.1:c.2206A>G	XP_011513730.1:p.Ser736Gly
XM_011515429.1:c.1999A>G	XP_011513731.1:p.Ser667Gly
XM_011515430.1:c.1999A>G	XP_011513732.1:p.Ser667Gly
NM_000535.6:c.2317A>G	NP_000526.2:p.Ser773Gly
NM_001322003.1:c.1912A>G	NP_001308932.1:p.Ser638Gly
NM_001322004.1:c.1912A>G	NP_001308933.1:p.Ser638Gly
NM_001322005.1:c.1912A>G	NP_001308934.1:p.Ser638Gly
NM_001322006.1:c.2161A>G	NP_001308935.1:p.Ser721Gly
NM_001322007.1:c.1999A>G	NP_001308936.1:p.Ser667Gly
NM_001322008.1:c.1999A>G	NP_001308937.1:p.Ser667Gly
NM_001322009.1:c.1945A>G	NP_001308938.1:p.Ser649Gly
NM_001322010.1:c.1756A>G	NP_001308939.1:p.Ser586Gly
NM_001322011.1:c.1384A>G	NP_001308940.1:p.Ser462Gly
NM_001322012.1:c.1384A>G	NP_001308941.1:p.Ser462Gly
NM_001322013.1:c.1744A>G	NP_001308942.1:p.Ser582Gly
NM_001322014.1:c.2350A>G	NP_001308943.1:p.Ser784Gly
NM_001322015.1:c.2008A>G	NP_001308944.1:p.Ser670Gly
NR_136154.1:n.2363-2A>G
XM_006715744.4:c.1384A>G	XP_006715807.1:p.Ser462Gly
XM_017012342.2:c.1384A>G	XP_016867831.1:p.Ser462Gly
XM_024446800.1:c.1756A>G	XP_024302568.1:p.Ser586Gly
NM_000535.7:c.2317A>G MANE Select	NP_000526.2:p.Ser773Gly
NM_001322003.2:c.1912A>G	NP_001308932.1:p.Ser638Gly
NM_001322004.2:c.1912A>G	NP_001308933.1:p.Ser638Gly
NM_001322005.2:c.1912A>G	NP_001308934.1:p.Ser638Gly
NM_001322006.2:c.2161A>G	NP_001308935.1:p.Ser721Gly
NM_001322008.2:c.1999A>G	NP_001308937.1:p.Ser667Gly
NM_001322009.2:c.1945A>G	NP_001308938.1:p.Ser649Gly
NM_001322010.2:c.1756A>G	NP_001308939.1:p.Ser586Gly
NM_001322011.2:c.1384A>G	NP_001308940.1:p.Ser462Gly
NM_001322012.2:c.1384A>G	NP_001308941.1:p.Ser462Gly
NM_001322013.2:c.1744A>G	NP_001308942.1:p.Ser582Gly
NM_001322014.2:c.2350A>G	NP_001308943.1:p.Ser784Gly
NM_001322015.2:c.2008A>G	NP_001308944.1:p.Ser670Gly
NM_001322007.2:c.1999A>G	NP_001308936.1:p.Ser667Gly