Canonical Allele Identifier: CA366737955

Gene: PMS2

Linked Data

• ClinVar Variation Id: 820656
• ClinVar RCV Id: RCV001014324 ; RCV001037162
• dbSNP Id: rs1583298644
• gnomAD v4: 7-5982879-A-G
• MyVariant Identifiers: chr7:g.6022510A>G (hg19) ; chr7:g.5982879A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982879A>G , CM000669.2:g.5982879A>G	GRCh38
NC_000007.13:g.6022510A>G , CM000669.1:g.6022510A>G	GRCh37
NC_000007.12:g.5989036A>G	NCBI36
NG_008466.1:g.31228T>C , LRG_161:g.31228T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1515T>C	ENSP00000514615.2:n.*1515T>C
ENST00000699840.2:c.2116T>C	ENSP00000514638.2:p.Tyr706His
ENST00000699930.2:c.2011T>C	ENSP00000514695.2:p.Tyr671His
ENST00000406569.8:c.1678+4208T>C	ENSP00000514464.1:n.1678+4208T>C
ENST00000644110.2:c.*1713T>C	ENSP00000496392.2:n.*1713T>C
ENST00000699752.1:c.1963T>C	ENSP00000514561.1:p.Tyr655His
ENST00000699753.1:c.*1540T>C	ENSP00000514562.1:n.*1540T>C
ENST00000699754.1:c.1921T>C	ENSP00000514563.1:p.Tyr641His
ENST00000699755.1:c.*1518T>C	ENSP00000514564.1:n.*1518T>C
ENST00000699756.1:c.*1706T>C	ENSP00000514565.1:n.*1706T>C
ENST00000699757.1:c.*1376T>C	ENSP00000514566.1:n.*1376T>C
ENST00000699758.1:c.*1376T>C	ENSP00000514567.1:n.*1376T>C
ENST00000699759.1:n.2973T>C
ENST00000699760.1:c.1801T>C	ENSP00000514568.1:p.Tyr601His
ENST00000699761.1:c.1714T>C	ENSP00000514569.1:p.Tyr572His
ENST00000699762.1:c.1546T>C	ENSP00000514570.1:p.Tyr516His
ENST00000699763.1:c.*1209T>C	ENSP00000514571.1:n.*1209T>C
ENST00000699764.1:c.*437T>C	ENSP00000514572.1:n.*437T>C
ENST00000699765.1:c.*1215T>C	ENSP00000514573.1:n.*1215T>C
ENST00000699766.1:c.2119T>C	ENSP00000514574.1:p.Tyr707His
ENST00000699767.1:c.2119T>C	ENSP00000514575.1:p.Tyr707His
ENST00000699768.1:c.2119T>C	ENSP00000514576.1:p.Tyr707His
ENST00000699811.1:c.1714T>C	ENSP00000514614.1:p.Tyr572His
ENST00000699813.1:n.2232T>C
ENST00000699814.1:c.1742T>C
ENST00000699815.1:c.*1650T>C	ENSP00000514616.1:n.*1650T>C
ENST00000699816.1:c.*1009T>C	ENSP00000514617.1:n.*1009T>C
ENST00000699817.1:c.*1713T>C	ENSP00000514618.1:n.*1713T>C
ENST00000699818.1:c.1714T>C	ENSP00000514619.1:p.Tyr572His
ENST00000699819.1:c.*1276T>C	ENSP00000514620.1:n.*1276T>C
ENST00000699820.1:c.*57T>C	ENSP00000514621.1:n.*57T>C
ENST00000699821.1:c.1714T>C	ENSP00000514622.1:p.Tyr572His
ENST00000699822.1:c.*1571T>C	ENSP00000514623.1:n.*1571T>C
ENST00000699823.1:c.1714T>C	ENSP00000514624.1:p.Tyr572His
ENST00000699824.1:c.*1622T>C	ENSP00000514625.1:n.*1622T>C
ENST00000699825.1:c.1558T>C	ENSP00000514626.1:p.Tyr520His
ENST00000699826.1:c.*1518T>C	ENSP00000514627.1:n.*1518T>C
ENST00000699827.1:c.1951T>C	ENSP00000514628.1:p.Tyr651His
ENST00000699828.1:c.*1209T>C	ENSP00000514629.1:n.*1209T>C
ENST00000699833.1:n.3891T>C
ENST00000699837.1:c.1714T>C	ENSP00000514635.1:p.Tyr572His
ENST00000699838.1:c.*2019T>C	ENSP00000514636.1:n.*2019T>C
ENST00000699839.1:c.2305T>C	ENSP00000514637.1:p.Tyr769His
ENST00000699916.1:c.*1376T>C	ENSP00000514684.1:n.*1376T>C
ENST00000699917.1:c.*1568T>C	ENSP00000514685.1:n.*1568T>C
ENST00000699918.1:c.*1620T>C	ENSP00000514686.1:n.*1620T>C
ENST00000699919.1:c.*1706T>C	ENSP00000514687.1:n.*1706T>C
ENST00000699920.1:c.*1755T>C	ENSP00000514688.1:n.*1755T>C
ENST00000699928.1:c.*57T>C	ENSP00000514693.1:n.*57T>C
ENST00000699951.1:c.*1215T>C	ENSP00000514706.1:n.*1215T>C
ENST00000699952.1:c.804-9337T>C	ENSP00000514707.1:n.804-9337T>C
ENST00000265849.12:c.2119T>C MANE Select	ENSP00000265849.7:p.Tyr707His
ENST00000642292.1:c.1714T>C	ENSP00000495524.1:p.Tyr572His
ENST00000642456.1:c.1714T>C	ENSP00000493814.1:p.Tyr572His
ENST00000643595.1:c.*1518T>C	ENSP00000494497.1:n.*1518T>C
ENST00000644110.1:c.1801T>C	ENSP00000496392.1:p.Tyr601His
ENST00000265849.11:c.2119T>C	ENSP00000265849.7:p.Tyr707His
ENST00000382321.5:c.916T>C	ENSP00000371758.4:p.Tyr306His
ENST00000406569.7:n.1678+4208T>C
ENST00000441476.6:c.1801T>C	ENSP00000392843.2:p.Tyr601His
ENST00000469652.1:n.89T>C
NM_000535.5:c.2119T>C , LRG_161t1:c.2119T>C	NP_000526.1:p.Tyr707His
NR_003085.2:n.2201T>C
XM_006715742.2:c.2113T>C	XP_006715805.1:p.Tyr705His
XM_006715744.2:c.1186T>C	XP_006715807.1:p.Tyr396His
XM_011515427.1:c.2164T>C	XP_011513729.1:p.Tyr722His
XM_011515428.1:c.2008T>C	XP_011513730.1:p.Tyr670His
XM_011515429.1:c.1801T>C	XP_011513731.1:p.Tyr601His
XM_011515430.1:c.1801T>C	XP_011513732.1:p.Tyr601His
NM_000535.6:c.2119T>C	NP_000526.2:p.Tyr707His
NM_001322003.1:c.1714T>C	NP_001308932.1:p.Tyr572His
NM_001322004.1:c.1714T>C	NP_001308933.1:p.Tyr572His
NM_001322005.1:c.1714T>C	NP_001308934.1:p.Tyr572His
NM_001322006.1:c.1963T>C	NP_001308935.1:p.Tyr655His
NM_001322007.1:c.1801T>C	NP_001308936.1:p.Tyr601His
NM_001322008.1:c.1801T>C	NP_001308937.1:p.Tyr601His
NM_001322009.1:c.1714T>C	NP_001308938.1:p.Tyr572His
NM_001322010.1:c.1558T>C	NP_001308939.1:p.Tyr520His
NM_001322011.1:c.1186T>C	NP_001308940.1:p.Tyr396His
NM_001322012.1:c.1186T>C	NP_001308941.1:p.Tyr396His
NM_001322013.1:c.1546T>C	NP_001308942.1:p.Tyr516His
NM_001322014.1:c.2119T>C	NP_001308943.1:p.Tyr707His
NM_001322015.1:c.1810T>C	NP_001308944.1:p.Tyr604His
NR_136154.1:n.2206T>C
XM_006715744.4:c.1186T>C	XP_006715807.1:p.Tyr396His
XM_017012342.2:c.1186T>C	XP_016867831.1:p.Tyr396His
XM_024446800.1:c.1558T>C	XP_024302568.1:p.Tyr520His
NM_000535.7:c.2119T>C MANE Select	NP_000526.2:p.Tyr707His
NM_001322003.2:c.1714T>C	NP_001308932.1:p.Tyr572His
NM_001322004.2:c.1714T>C	NP_001308933.1:p.Tyr572His
NM_001322005.2:c.1714T>C	NP_001308934.1:p.Tyr572His
NM_001322006.2:c.1963T>C	NP_001308935.1:p.Tyr655His
NM_001322008.2:c.1801T>C	NP_001308937.1:p.Tyr601His
NM_001322009.2:c.1714T>C	NP_001308938.1:p.Tyr572His
NM_001322010.2:c.1558T>C	NP_001308939.1:p.Tyr520His
NM_001322011.2:c.1186T>C	NP_001308940.1:p.Tyr396His
NM_001322012.2:c.1186T>C	NP_001308941.1:p.Tyr396His
NM_001322013.2:c.1546T>C	NP_001308942.1:p.Tyr516His
NM_001322014.2:c.2119T>C	NP_001308943.1:p.Tyr707His
NM_001322015.2:c.1810T>C	NP_001308944.1:p.Tyr604His
NM_001322007.2:c.1801T>C	NP_001308936.1:p.Tyr601His