Canonical Allele Identifier: CA366737836

Gene: PMS2

Linked Data

• ClinVar Variation Id: 945119
• ClinVar RCV Id: RCV001215677 ; RCV002429918
• dbSNP Id: rs150630090
• gnomAD v2: 7-6022455-G-T
• MyVariant Identifiers: chr7:g.6022455G>T (hg19) ; chr7:g.5982824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982824G>T , CM000669.2:g.5982824G>T	GRCh38
NC_000007.13:g.6022455G>T , CM000669.1:g.6022455G>T	GRCh37
NC_000007.12:g.5988981G>T	NCBI36
NG_008466.1:g.31283C>A , LRG_161:g.31283C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1570C>A	ENSP00000514615.2:n.*1570C>A
ENST00000699840.2:c.2171C>A	ENSP00000514638.2:p.Ala724Glu
ENST00000699930.2:c.2066C>A	ENSP00000514695.2:p.Ala689Glu
ENST00000406569.8:c.1678+4263C>A	ENSP00000514464.1:n.1678+4263C>A
ENST00000644110.2:c.*1768C>A	ENSP00000496392.2:n.*1768C>A
ENST00000699752.1:c.2018C>A	ENSP00000514561.1:p.Ala673Glu
ENST00000699753.1:c.*1595C>A	ENSP00000514562.1:n.*1595C>A
ENST00000699754.1:c.1976C>A	ENSP00000514563.1:p.Ala659Glu
ENST00000699755.1:c.*1573C>A	ENSP00000514564.1:n.*1573C>A
ENST00000699756.1:c.*1761C>A	ENSP00000514565.1:n.*1761C>A
ENST00000699757.1:c.*1431C>A	ENSP00000514566.1:n.*1431C>A
ENST00000699758.1:c.*1431C>A	ENSP00000514567.1:n.*1431C>A
ENST00000699759.1:n.3028C>A
ENST00000699760.1:c.1856C>A	ENSP00000514568.1:p.Ala619Glu
ENST00000699761.1:c.1769C>A	ENSP00000514569.1:p.Ala590Glu
ENST00000699762.1:c.1601C>A	ENSP00000514570.1:p.Ala534Glu
ENST00000699763.1:c.*1264C>A	ENSP00000514571.1:n.*1264C>A
ENST00000699764.1:c.*492C>A	ENSP00000514572.1:n.*492C>A
ENST00000699765.1:c.*1270C>A	ENSP00000514573.1:n.*1270C>A
ENST00000699766.1:c.2174C>A	ENSP00000514574.1:p.Ala725Glu
ENST00000699767.1:c.2174C>A	ENSP00000514575.1:p.Ala725Glu
ENST00000699768.1:c.2174C>A	ENSP00000514576.1:p.Ala725Asp
ENST00000699811.1:c.1769C>A	ENSP00000514614.1:p.Ala590Glu
ENST00000699813.1:n.2287C>A
ENST00000699814.1:c.1797C>A
ENST00000699815.1:c.*1705C>A	ENSP00000514616.1:n.*1705C>A
ENST00000699816.1:c.*1064C>A	ENSP00000514617.1:n.*1064C>A
ENST00000699817.1:c.*1768C>A	ENSP00000514618.1:n.*1768C>A
ENST00000699818.1:c.1769C>A	ENSP00000514619.1:p.Ala590Glu
ENST00000699819.1:c.*1331C>A	ENSP00000514620.1:n.*1331C>A
ENST00000699820.1:c.*112C>A	ENSP00000514621.1:n.*112C>A
ENST00000699821.1:c.1769C>A	ENSP00000514622.1:p.Ala590Glu
ENST00000699822.1:c.*1626C>A	ENSP00000514623.1:n.*1626C>A
ENST00000699823.1:c.1769C>A	ENSP00000514624.1:p.Ala590Glu
ENST00000699824.1:c.*1677C>A	ENSP00000514625.1:n.*1677C>A
ENST00000699825.1:c.1613C>A	ENSP00000514626.1:p.Ala538Glu
ENST00000699826.1:c.*1573C>A	ENSP00000514627.1:n.*1573C>A
ENST00000699827.1:c.2006C>A	ENSP00000514628.1:p.Ala669Glu
ENST00000699828.1:c.*1264C>A	ENSP00000514629.1:n.*1264C>A
ENST00000699833.1:n.3946C>A
ENST00000699837.1:c.1769C>A	ENSP00000514635.1:p.Ala590Glu
ENST00000699838.1:c.*2074C>A	ENSP00000514636.1:n.*2074C>A
ENST00000699839.1:c.2360C>A	ENSP00000514637.1:p.Ala787Glu
ENST00000699916.1:c.*1431C>A	ENSP00000514684.1:n.*1431C>A
ENST00000699917.1:c.*1623C>A	ENSP00000514685.1:n.*1623C>A
ENST00000699918.1:c.*1675C>A	ENSP00000514686.1:n.*1675C>A
ENST00000699919.1:c.*1761C>A	ENSP00000514687.1:n.*1761C>A
ENST00000699920.1:c.*1810C>A	ENSP00000514688.1:n.*1810C>A
ENST00000699928.1:c.*112C>A	ENSP00000514693.1:n.*112C>A
ENST00000699951.1:c.*1270C>A	ENSP00000514706.1:n.*1270C>A
ENST00000699952.1:c.804-9282C>A	ENSP00000514707.1:n.804-9282C>A
ENST00000265849.12:c.2174C>A MANE Select	ENSP00000265849.7:p.Ala725Glu
ENST00000642292.1:c.1769C>A	ENSP00000495524.1:p.Ala590Glu
ENST00000642456.1:c.1769C>A	ENSP00000493814.1:p.Ala590Glu
ENST00000643595.1:c.*1573C>A	ENSP00000494497.1:n.*1573C>A
ENST00000644110.1:c.1856C>A	ENSP00000496392.1:p.Ala619Glu
ENST00000265849.11:c.2174C>A	ENSP00000265849.7:p.Ala725Glu
ENST00000382321.5:c.971C>A	ENSP00000371758.4:p.Ala324Glu
ENST00000406569.7:n.1678+4263C>A
ENST00000441476.6:c.1856C>A	ENSP00000392843.2:p.Ala619Glu
NM_000535.5:c.2174C>A , LRG_161t1:c.2174C>A	NP_000526.1:p.Ala725Glu
NR_003085.2:n.2256C>A
XM_006715742.2:c.2168C>A	XP_006715805.1:p.Ala723Glu
XM_006715744.2:c.1241C>A	XP_006715807.1:p.Ala414Glu
XM_011515427.1:c.2219C>A	XP_011513729.1:p.Ala740Glu
XM_011515428.1:c.2063C>A	XP_011513730.1:p.Ala688Glu
XM_011515429.1:c.1856C>A	XP_011513731.1:p.Ala619Glu
XM_011515430.1:c.1856C>A	XP_011513732.1:p.Ala619Glu
NM_000535.6:c.2174C>A	NP_000526.2:p.Ala725Glu
NM_001322003.1:c.1769C>A	NP_001308932.1:p.Ala590Glu
NM_001322004.1:c.1769C>A	NP_001308933.1:p.Ala590Glu
NM_001322005.1:c.1769C>A	NP_001308934.1:p.Ala590Glu
NM_001322006.1:c.2018C>A	NP_001308935.1:p.Ala673Glu
NM_001322007.1:c.1856C>A	NP_001308936.1:p.Ala619Glu
NM_001322008.1:c.1856C>A	NP_001308937.1:p.Ala619Glu
NM_001322009.1:c.1769C>A	NP_001308938.1:p.Ala590Glu
NM_001322010.1:c.1613C>A	NP_001308939.1:p.Ala538Glu
NM_001322011.1:c.1241C>A	NP_001308940.1:p.Ala414Glu
NM_001322012.1:c.1241C>A	NP_001308941.1:p.Ala414Glu
NM_001322013.1:c.1601C>A	NP_001308942.1:p.Ala534Glu
NM_001322014.1:c.2174C>A	NP_001308943.1:p.Ala725Glu
NM_001322015.1:c.1865C>A	NP_001308944.1:p.Ala622Glu
NR_136154.1:n.2261C>A
XM_006715744.4:c.1241C>A	XP_006715807.1:p.Ala414Glu
XM_017012342.2:c.1241C>A	XP_016867831.1:p.Ala414Glu
XM_024446800.1:c.1613C>A	XP_024302568.1:p.Ala538Glu
NM_000535.7:c.2174C>A MANE Select	NP_000526.2:p.Ala725Glu
NM_001322003.2:c.1769C>A	NP_001308932.1:p.Ala590Glu
NM_001322004.2:c.1769C>A	NP_001308933.1:p.Ala590Glu
NM_001322005.2:c.1769C>A	NP_001308934.1:p.Ala590Glu
NM_001322006.2:c.2018C>A	NP_001308935.1:p.Ala673Glu
NM_001322008.2:c.1856C>A	NP_001308937.1:p.Ala619Glu
NM_001322009.2:c.1769C>A	NP_001308938.1:p.Ala590Glu
NM_001322010.2:c.1613C>A	NP_001308939.1:p.Ala538Glu
NM_001322011.2:c.1241C>A	NP_001308940.1:p.Ala414Glu
NM_001322012.2:c.1241C>A	NP_001308941.1:p.Ala414Glu
NM_001322013.2:c.1601C>A	NP_001308942.1:p.Ala534Glu
NM_001322014.2:c.2174C>A	NP_001308943.1:p.Ala725Glu
NM_001322015.2:c.1865C>A	NP_001308944.1:p.Ala622Glu
NM_001322007.2:c.1856C>A	NP_001308936.1:p.Ala619Glu