Canonical Allele Identifier: CA366738184

Gene: PMS2

Linked Data

• ClinVar Variation Id: 861355
• ClinVar RCV Id: RCV001067868
• dbSNP Id: rs1554295972
• MyVariant Identifiers: chr7:g.6022614A>G (hg19) ; chr7:g.5982983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982983A>G , CM000669.2:g.5982983A>G	GRCh38
NC_000007.13:g.6022614A>G , CM000669.1:g.6022614A>G	GRCh37
NC_000007.12:g.5989140A>G	NCBI36
NG_008466.1:g.31124T>C , LRG_161:g.31124T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1411T>C	ENSP00000514615.2:n.*1411T>C
ENST00000699840.2:c.2012T>C	ENSP00000514638.2:p.Met671Thr
ENST00000699930.2:c.1907T>C	ENSP00000514695.2:p.Met636Thr
ENST00000406569.8:c.1678+4104T>C	ENSP00000514464.1:n.1678+4104T>C
ENST00000644110.2:c.*1609T>C	ENSP00000496392.2:n.*1609T>C
ENST00000699752.1:c.1859T>C	ENSP00000514561.1:p.Met620Thr
ENST00000699753.1:c.*1436T>C	ENSP00000514562.1:n.*1436T>C
ENST00000699754.1:c.1817T>C	ENSP00000514563.1:p.Met606Thr
ENST00000699755.1:c.*1414T>C	ENSP00000514564.1:n.*1414T>C
ENST00000699756.1:c.*1602T>C	ENSP00000514565.1:n.*1602T>C
ENST00000699757.1:c.*1272T>C	ENSP00000514566.1:n.*1272T>C
ENST00000699758.1:c.*1272T>C	ENSP00000514567.1:n.*1272T>C
ENST00000699759.1:n.2869T>C
ENST00000699760.1:c.1697T>C	ENSP00000514568.1:p.Met566Thr
ENST00000699761.1:c.1610T>C	ENSP00000514569.1:p.Met537Thr
ENST00000699762.1:c.1442T>C	ENSP00000514570.1:p.Met481Thr
ENST00000699763.1:c.*1105T>C	ENSP00000514571.1:n.*1105T>C
ENST00000699764.1:c.*333T>C	ENSP00000514572.1:n.*333T>C
ENST00000699765.1:c.*1111T>C	ENSP00000514573.1:n.*1111T>C
ENST00000699766.1:c.2015T>C	ENSP00000514574.1:p.Met672Thr
ENST00000699767.1:c.2015T>C	ENSP00000514575.1:p.Met672Thr
ENST00000699768.1:c.2015T>C	ENSP00000514576.1:p.Met672Thr
ENST00000699811.1:c.1610T>C	ENSP00000514614.1:p.Met537Thr
ENST00000699813.1:n.2128T>C
ENST00000699814.1:c.1638T>C
ENST00000699815.1:c.*1546T>C	ENSP00000514616.1:n.*1546T>C
ENST00000699816.1:c.*905T>C	ENSP00000514617.1:n.*905T>C
ENST00000699817.1:c.*1609T>C	ENSP00000514618.1:n.*1609T>C
ENST00000699818.1:c.1610T>C	ENSP00000514619.1:p.Met537Thr
ENST00000699819.1:c.*1172T>C	ENSP00000514620.1:n.*1172T>C
ENST00000699820.1:c.1153T>C	ENSP00000514621.1:p.Cys385Arg
ENST00000699821.1:c.1610T>C	ENSP00000514622.1:p.Met537Thr
ENST00000699822.1:c.*1467T>C	ENSP00000514623.1:n.*1467T>C
ENST00000699823.1:c.1610T>C	ENSP00000514624.1:p.Met537Thr
ENST00000699824.1:c.*1518T>C	ENSP00000514625.1:n.*1518T>C
ENST00000699825.1:c.1454T>C	ENSP00000514626.1:p.Met485Thr
ENST00000699826.1:c.*1414T>C	ENSP00000514627.1:n.*1414T>C
ENST00000699827.1:c.1847T>C	ENSP00000514628.1:p.Met616Thr
ENST00000699828.1:c.*1105T>C	ENSP00000514629.1:n.*1105T>C
ENST00000699833.1:n.3787T>C
ENST00000699837.1:c.1610T>C	ENSP00000514635.1:p.Met537Thr
ENST00000699838.1:c.*1915T>C	ENSP00000514636.1:n.*1915T>C
ENST00000699839.1:c.2201T>C	ENSP00000514637.1:p.Met734Thr
ENST00000699916.1:c.*1272T>C	ENSP00000514684.1:n.*1272T>C
ENST00000699917.1:c.*1464T>C	ENSP00000514685.1:n.*1464T>C
ENST00000699918.1:c.*1516T>C	ENSP00000514686.1:n.*1516T>C
ENST00000699919.1:c.*1602T>C	ENSP00000514687.1:n.*1602T>C
ENST00000699920.1:c.*1651T>C	ENSP00000514688.1:n.*1651T>C
ENST00000699928.1:c.997T>C	ENSP00000514693.1:p.Cys333Arg
ENST00000699951.1:c.*1111T>C	ENSP00000514706.1:n.*1111T>C
ENST00000699952.1:c.804-9441T>C	ENSP00000514707.1:n.804-9441T>C
ENST00000265849.12:c.2015T>C MANE Select	ENSP00000265849.7:p.Met672Thr
ENST00000642292.1:c.1610T>C	ENSP00000495524.1:p.Met537Thr
ENST00000642456.1:c.1610T>C	ENSP00000493814.1:p.Met537Thr
ENST00000643595.1:c.*1414T>C	ENSP00000494497.1:n.*1414T>C
ENST00000644110.1:c.1697T>C	ENSP00000496392.1:p.Met566Thr
ENST00000265849.11:c.2015T>C	ENSP00000265849.7:p.Met672Thr
ENST00000382321.5:c.812T>C	ENSP00000371758.4:p.Met271Thr
ENST00000406569.7:n.1678+4104T>C
ENST00000441476.6:c.1697T>C	ENSP00000392843.2:p.Met566Thr
ENST00000469652.1:n.63-78T>C
NM_000535.5:c.2015T>C , LRG_161t1:c.2015T>C	NP_000526.1:p.Met672Thr
NR_003085.2:n.2097T>C
XM_006715742.2:c.2009T>C	XP_006715805.1:p.Met670Thr
XM_006715744.2:c.1082T>C	XP_006715807.1:p.Met361Thr
XM_011515427.1:c.2060T>C	XP_011513729.1:p.Met687Thr
XM_011515428.1:c.1904T>C	XP_011513730.1:p.Met635Thr
XM_011515429.1:c.1697T>C	XP_011513731.1:p.Met566Thr
XM_011515430.1:c.1697T>C	XP_011513732.1:p.Met566Thr
NM_000535.6:c.2015T>C	NP_000526.2:p.Met672Thr
NM_001322003.1:c.1610T>C	NP_001308932.1:p.Met537Thr
NM_001322004.1:c.1610T>C	NP_001308933.1:p.Met537Thr
NM_001322005.1:c.1610T>C	NP_001308934.1:p.Met537Thr
NM_001322006.1:c.1859T>C	NP_001308935.1:p.Met620Thr
NM_001322007.1:c.1697T>C	NP_001308936.1:p.Met566Thr
NM_001322008.1:c.1697T>C	NP_001308937.1:p.Met566Thr
NM_001322009.1:c.1610T>C	NP_001308938.1:p.Met537Thr
NM_001322010.1:c.1454T>C	NP_001308939.1:p.Met485Thr
NM_001322011.1:c.1082T>C	NP_001308940.1:p.Met361Thr
NM_001322012.1:c.1082T>C	NP_001308941.1:p.Met361Thr
NM_001322013.1:c.1442T>C	NP_001308942.1:p.Met481Thr
NM_001322014.1:c.2015T>C	NP_001308943.1:p.Met672Thr
NM_001322015.1:c.1706T>C	NP_001308944.1:p.Met569Thr
NR_136154.1:n.2102T>C
XM_006715744.4:c.1082T>C	XP_006715807.1:p.Met361Thr
XM_017012342.2:c.1082T>C	XP_016867831.1:p.Met361Thr
XM_024446800.1:c.1454T>C	XP_024302568.1:p.Met485Thr
NM_000535.7:c.2015T>C MANE Select	NP_000526.2:p.Met672Thr
NM_001322003.2:c.1610T>C	NP_001308932.1:p.Met537Thr
NM_001322004.2:c.1610T>C	NP_001308933.1:p.Met537Thr
NM_001322005.2:c.1610T>C	NP_001308934.1:p.Met537Thr
NM_001322006.2:c.1859T>C	NP_001308935.1:p.Met620Thr
NM_001322008.2:c.1697T>C	NP_001308937.1:p.Met566Thr
NM_001322009.2:c.1610T>C	NP_001308938.1:p.Met537Thr
NM_001322010.2:c.1454T>C	NP_001308939.1:p.Met485Thr
NM_001322011.2:c.1082T>C	NP_001308940.1:p.Met361Thr
NM_001322012.2:c.1082T>C	NP_001308941.1:p.Met361Thr
NM_001322013.2:c.1442T>C	NP_001308942.1:p.Met481Thr
NM_001322014.2:c.2015T>C	NP_001308943.1:p.Met672Thr
NM_001322015.2:c.1706T>C	NP_001308944.1:p.Met569Thr
NM_001322007.2:c.1697T>C	NP_001308936.1:p.Met566Thr