Canonical Allele Identifier: CA366737966

Gene: PMS2

Linked Data

• ClinVar Variation Id: 573081
• ClinVar RCV Id: RCV000694654 ; RCV001354123 ; RCV002422521
• dbSNP Id: rs1562615196
• gnomAD v4: 7-5982883-C-G
• MyVariant Identifiers: chr7:g.6022514C>G (hg19) ; chr7:g.5982883C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982883C>G , CM000669.2:g.5982883C>G	GRCh38
NC_000007.13:g.6022514C>G , CM000669.1:g.6022514C>G	GRCh37
NC_000007.12:g.5989040C>G	NCBI36
NG_008466.1:g.31224G>C , LRG_161:g.31224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1511G>C	ENSP00000514615.2:n.*1511G>C
ENST00000699840.2:c.2112G>C	ENSP00000514638.2:p.Glu704Asp
ENST00000699930.2:c.2007G>C	ENSP00000514695.2:p.Glu669Asp
ENST00000406569.8:c.1678+4204G>C	ENSP00000514464.1:n.1678+4204G>C
ENST00000644110.2:c.*1709G>C	ENSP00000496392.2:n.*1709G>C
ENST00000699752.1:c.1959G>C	ENSP00000514561.1:p.Glu653Asp
ENST00000699753.1:c.*1536G>C	ENSP00000514562.1:n.*1536G>C
ENST00000699754.1:c.1917G>C	ENSP00000514563.1:p.Glu639Asp
ENST00000699755.1:c.*1514G>C	ENSP00000514564.1:n.*1514G>C
ENST00000699756.1:c.*1702G>C	ENSP00000514565.1:n.*1702G>C
ENST00000699757.1:c.*1372G>C	ENSP00000514566.1:n.*1372G>C
ENST00000699758.1:c.*1372G>C	ENSP00000514567.1:n.*1372G>C
ENST00000699759.1:n.2969G>C
ENST00000699760.1:c.1797G>C	ENSP00000514568.1:p.Glu599Asp
ENST00000699761.1:c.1710G>C	ENSP00000514569.1:p.Glu570Asp
ENST00000699762.1:c.1542G>C	ENSP00000514570.1:p.Glu514Asp
ENST00000699763.1:c.*1205G>C	ENSP00000514571.1:n.*1205G>C
ENST00000699764.1:c.*433G>C	ENSP00000514572.1:n.*433G>C
ENST00000699765.1:c.*1211G>C	ENSP00000514573.1:n.*1211G>C
ENST00000699766.1:c.2115G>C	ENSP00000514574.1:p.Glu705Asp
ENST00000699767.1:c.2115G>C	ENSP00000514575.1:p.Glu705Asp
ENST00000699768.1:c.2115G>C	ENSP00000514576.1:p.Glu705Asp
ENST00000699811.1:c.1710G>C	ENSP00000514614.1:p.Glu570Asp
ENST00000699813.1:n.2228G>C
ENST00000699814.1:c.1738G>C
ENST00000699815.1:c.*1646G>C	ENSP00000514616.1:n.*1646G>C
ENST00000699816.1:c.*1005G>C	ENSP00000514617.1:n.*1005G>C
ENST00000699817.1:c.*1709G>C	ENSP00000514618.1:n.*1709G>C
ENST00000699818.1:c.1710G>C	ENSP00000514619.1:p.Glu570Asp
ENST00000699819.1:c.*1272G>C	ENSP00000514620.1:n.*1272G>C
ENST00000699820.1:c.*53G>C	ENSP00000514621.1:n.*53G>C
ENST00000699821.1:c.1710G>C	ENSP00000514622.1:p.Glu570Asp
ENST00000699822.1:c.*1567G>C	ENSP00000514623.1:n.*1567G>C
ENST00000699823.1:c.1710G>C	ENSP00000514624.1:p.Glu570Asp
ENST00000699824.1:c.*1618G>C	ENSP00000514625.1:n.*1618G>C
ENST00000699825.1:c.1554G>C	ENSP00000514626.1:p.Glu518Asp
ENST00000699826.1:c.*1514G>C	ENSP00000514627.1:n.*1514G>C
ENST00000699827.1:c.1947G>C	ENSP00000514628.1:p.Glu649Asp
ENST00000699828.1:c.*1205G>C	ENSP00000514629.1:n.*1205G>C
ENST00000699833.1:n.3887G>C
ENST00000699837.1:c.1710G>C	ENSP00000514635.1:p.Glu570Asp
ENST00000699838.1:c.*2015G>C	ENSP00000514636.1:n.*2015G>C
ENST00000699839.1:c.2301G>C	ENSP00000514637.1:p.Glu767Asp
ENST00000699916.1:c.*1372G>C	ENSP00000514684.1:n.*1372G>C
ENST00000699917.1:c.*1564G>C	ENSP00000514685.1:n.*1564G>C
ENST00000699918.1:c.*1616G>C	ENSP00000514686.1:n.*1616G>C
ENST00000699919.1:c.*1702G>C	ENSP00000514687.1:n.*1702G>C
ENST00000699920.1:c.*1751G>C	ENSP00000514688.1:n.*1751G>C
ENST00000699928.1:c.*53G>C	ENSP00000514693.1:n.*53G>C
ENST00000699951.1:c.*1211G>C	ENSP00000514706.1:n.*1211G>C
ENST00000699952.1:c.804-9341G>C	ENSP00000514707.1:n.804-9341G>C
ENST00000265849.12:c.2115G>C MANE Select	ENSP00000265849.7:p.Glu705Asp
ENST00000642292.1:c.1710G>C	ENSP00000495524.1:p.Glu570Asp
ENST00000642456.1:c.1710G>C	ENSP00000493814.1:p.Glu570Asp
ENST00000643595.1:c.*1514G>C	ENSP00000494497.1:n.*1514G>C
ENST00000644110.1:c.1797G>C	ENSP00000496392.1:p.Glu599Asp
ENST00000265849.11:c.2115G>C	ENSP00000265849.7:p.Glu705Asp
ENST00000382321.5:c.912G>C	ENSP00000371758.4:p.Glu304Asp
ENST00000406569.7:n.1678+4204G>C
ENST00000441476.6:c.1797G>C	ENSP00000392843.2:p.Glu599Asp
ENST00000469652.1:n.85G>C
NM_000535.5:c.2115G>C , LRG_161t1:c.2115G>C	NP_000526.1:p.Glu705Asp
NR_003085.2:n.2197G>C
XM_006715742.2:c.2109G>C	XP_006715805.1:p.Glu703Asp
XM_006715744.2:c.1182G>C	XP_006715807.1:p.Glu394Asp
XM_011515427.1:c.2160G>C	XP_011513729.1:p.Glu720Asp
XM_011515428.1:c.2004G>C	XP_011513730.1:p.Glu668Asp
XM_011515429.1:c.1797G>C	XP_011513731.1:p.Glu599Asp
XM_011515430.1:c.1797G>C	XP_011513732.1:p.Glu599Asp
NM_000535.6:c.2115G>C	NP_000526.2:p.Glu705Asp
NM_001322003.1:c.1710G>C	NP_001308932.1:p.Glu570Asp
NM_001322004.1:c.1710G>C	NP_001308933.1:p.Glu570Asp
NM_001322005.1:c.1710G>C	NP_001308934.1:p.Glu570Asp
NM_001322006.1:c.1959G>C	NP_001308935.1:p.Glu653Asp
NM_001322007.1:c.1797G>C	NP_001308936.1:p.Glu599Asp
NM_001322008.1:c.1797G>C	NP_001308937.1:p.Glu599Asp
NM_001322009.1:c.1710G>C	NP_001308938.1:p.Glu570Asp
NM_001322010.1:c.1554G>C	NP_001308939.1:p.Glu518Asp
NM_001322011.1:c.1182G>C	NP_001308940.1:p.Glu394Asp
NM_001322012.1:c.1182G>C	NP_001308941.1:p.Glu394Asp
NM_001322013.1:c.1542G>C	NP_001308942.1:p.Glu514Asp
NM_001322014.1:c.2115G>C	NP_001308943.1:p.Glu705Asp
NM_001322015.1:c.1806G>C	NP_001308944.1:p.Glu602Asp
NR_136154.1:n.2202G>C
XM_006715744.4:c.1182G>C	XP_006715807.1:p.Glu394Asp
XM_017012342.2:c.1182G>C	XP_016867831.1:p.Glu394Asp
XM_024446800.1:c.1554G>C	XP_024302568.1:p.Glu518Asp
NM_000535.7:c.2115G>C MANE Select	NP_000526.2:p.Glu705Asp
NM_001322003.2:c.1710G>C	NP_001308932.1:p.Glu570Asp
NM_001322004.2:c.1710G>C	NP_001308933.1:p.Glu570Asp
NM_001322005.2:c.1710G>C	NP_001308934.1:p.Glu570Asp
NM_001322006.2:c.1959G>C	NP_001308935.1:p.Glu653Asp
NM_001322008.2:c.1797G>C	NP_001308937.1:p.Glu599Asp
NM_001322009.2:c.1710G>C	NP_001308938.1:p.Glu570Asp
NM_001322010.2:c.1554G>C	NP_001308939.1:p.Glu518Asp
NM_001322011.2:c.1182G>C	NP_001308940.1:p.Glu394Asp
NM_001322012.2:c.1182G>C	NP_001308941.1:p.Glu394Asp
NM_001322013.2:c.1542G>C	NP_001308942.1:p.Glu514Asp
NM_001322014.2:c.2115G>C	NP_001308943.1:p.Glu705Asp
NM_001322015.2:c.1806G>C	NP_001308944.1:p.Glu602Asp
NM_001322007.2:c.1797G>C	NP_001308936.1:p.Glu599Asp