Canonical Allele Identifier: CA16605239

Gene: PMS2

Linked Data

• ClinVar Variation Id: 392895
• ClinVar RCV Id: RCV000420178 ; RCV001459250 ; RCV002258897
• dbSNP Id: rs1057524687
• gnomAD v4: 7-5986872-C-T
• MyVariant Identifiers: chr7:g.6026503C>T (hg19) ; chr7:g.5986872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986872C>T , CM000669.2:g.5986872C>T	GRCh38
NC_000007.13:g.6026503C>T , CM000669.1:g.6026503C>T	GRCh37
NC_000007.12:g.5993029C>T	NCBI36
NG_008466.1:g.27235G>A , LRG_161:g.27235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1289G>A	ENSP00000514615.2:n.*1289G>A
ENST00000699840.2:c.1890G>A	ENSP00000514638.2:p.Gln630=
ENST00000699930.2:c.1785G>A	ENSP00000514695.2:p.Gln595=
ENST00000406569.8:c.1678+215G>A	ENSP00000514464.1:n.1678+215G>A
ENST00000644110.2:c.*1487G>A	ENSP00000496392.2:n.*1487G>A
ENST00000699752.1:c.1737G>A	ENSP00000514561.1:p.Gln579=
ENST00000699753.1:c.*1314G>A	ENSP00000514562.1:n.*1314G>A
ENST00000699754.1:c.1695G>A	ENSP00000514563.1:p.Gln565=
ENST00000699755.1:c.*1292G>A	ENSP00000514564.1:n.*1292G>A
ENST00000699756.1:c.*1480G>A	ENSP00000514565.1:n.*1480G>A
ENST00000699757.1:c.*1150G>A	ENSP00000514566.1:n.*1150G>A
ENST00000699758.1:c.*1150G>A	ENSP00000514567.1:n.*1150G>A
ENST00000699759.1:n.2747G>A
ENST00000699760.1:c.1575G>A	ENSP00000514568.1:p.Gln525=
ENST00000699761.1:c.1488G>A	ENSP00000514569.1:p.Gln496=
ENST00000699762.1:c.1320G>A	ENSP00000514570.1:p.Gln440=
ENST00000699763.1:c.*983G>A	ENSP00000514571.1:n.*983G>A
ENST00000699764.1:c.*211G>A	ENSP00000514572.1:n.*211G>A
ENST00000699765.1:c.*989G>A	ENSP00000514573.1:n.*989G>A
ENST00000699766.1:c.1893G>A	ENSP00000514574.1:p.Gln631=
ENST00000699767.1:c.1893G>A	ENSP00000514575.1:p.Gln631=
ENST00000699768.1:c.1893G>A	ENSP00000514576.1:p.Gln631=
ENST00000699811.1:c.1488G>A	ENSP00000514614.1:p.Gln496=
ENST00000699813.1:n.2006G>A
ENST00000699814.1:c.1516G>A
ENST00000699815.1:c.*1424G>A	ENSP00000514616.1:n.*1424G>A
ENST00000699816.1:c.*783G>A	ENSP00000514617.1:n.*783G>A
ENST00000699817.1:c.*1487G>A	ENSP00000514618.1:n.*1487G>A
ENST00000699818.1:c.1488G>A	ENSP00000514619.1:p.Gln496=
ENST00000699819.1:c.*1050G>A	ENSP00000514620.1:n.*1050G>A
ENST00000699820.1:c.1144+2928G>A	ENSP00000514621.1:n.1144+2928G>A
ENST00000699821.1:c.1488G>A	ENSP00000514622.1:p.Gln496=
ENST00000699822.1:c.*1345G>A	ENSP00000514623.1:n.*1345G>A
ENST00000699823.1:c.1488G>A	ENSP00000514624.1:p.Gln496=
ENST00000699824.1:c.*1396G>A	ENSP00000514625.1:n.*1396G>A
ENST00000699825.1:c.1332G>A	ENSP00000514626.1:p.Gln444=
ENST00000699826.1:c.*1292G>A	ENSP00000514627.1:n.*1292G>A
ENST00000699827.1:c.1725G>A	ENSP00000514628.1:p.Gln575=
ENST00000699828.1:c.*983G>A	ENSP00000514629.1:n.*983G>A
ENST00000699833.1:n.3665G>A
ENST00000699837.1:c.1488G>A	ENSP00000514635.1:p.Gln496=
ENST00000699838.1:c.*1793G>A	ENSP00000514636.1:n.*1793G>A
ENST00000699839.1:c.2079G>A	ENSP00000514637.1:p.Gln693=
ENST00000699916.1:c.*1150G>A	ENSP00000514684.1:n.*1150G>A
ENST00000699917.1:c.*1342G>A	ENSP00000514685.1:n.*1342G>A
ENST00000699918.1:c.*1394G>A	ENSP00000514686.1:n.*1394G>A
ENST00000699919.1:c.*1480G>A	ENSP00000514687.1:n.*1480G>A
ENST00000699920.1:c.*1529G>A	ENSP00000514688.1:n.*1529G>A
ENST00000699928.1:c.989-3881G>A	ENSP00000514693.1:n.989-3881G>A
ENST00000699951.1:c.*989G>A	ENSP00000514706.1:n.*989G>A
ENST00000699952.1:c.803+10454G>A	ENSP00000514707.1:n.803+10454G>A
ENST00000265849.12:c.1893G>A MANE Select	ENSP00000265849.7:p.Gln631=
ENST00000642292.1:c.1488G>A	ENSP00000495524.1:p.Gln496=
ENST00000642456.1:c.1488G>A	ENSP00000493814.1:p.Gln496=
ENST00000643595.1:c.*1292G>A	ENSP00000494497.1:n.*1292G>A
ENST00000644110.1:c.1575G>A	ENSP00000496392.1:p.Gln525=
ENST00000265849.11:c.1893G>A	ENSP00000265849.7:p.Gln631=
ENST00000382321.5:c.804-3881G>A	ENSP00000371758.4:n.804-3881G>A
ENST00000406569.7:n.1678+215G>A
ENST00000441476.6:c.1575G>A	ENSP00000392843.2:p.Gln525=
ENST00000469652.1:n.63-3967G>A
NM_000535.5:c.1893G>A , LRG_161t1:c.1893G>A	NP_000526.1:p.Gln631=
NR_003085.2:n.1975G>A
XM_006715742.2:c.1887G>A	XP_006715805.1:p.Gln629=
XM_006715744.2:c.960G>A	XP_006715807.1:p.Gln320=
XM_011515427.1:c.1938G>A	XP_011513729.1:p.Gln646=
XM_011515428.1:c.1782G>A	XP_011513730.1:p.Gln594=
XM_011515429.1:c.1575G>A	XP_011513731.1:p.Gln525=
XM_011515430.1:c.1575G>A	XP_011513732.1:p.Gln525=
NM_000535.6:c.1893G>A	NP_000526.2:p.Gln631=
NM_001322003.1:c.1488G>A	NP_001308932.1:p.Gln496=
NM_001322004.1:c.1488G>A	NP_001308933.1:p.Gln496=
NM_001322005.1:c.1488G>A	NP_001308934.1:p.Gln496=
NM_001322006.1:c.1737G>A	NP_001308935.1:p.Gln579=
NM_001322007.1:c.1575G>A	NP_001308936.1:p.Gln525=
NM_001322008.1:c.1575G>A	NP_001308937.1:p.Gln525=
NM_001322009.1:c.1488G>A	NP_001308938.1:p.Gln496=
NM_001322010.1:c.1332G>A	NP_001308939.1:p.Gln444=
NM_001322011.1:c.960G>A	NP_001308940.1:p.Gln320=
NM_001322012.1:c.960G>A	NP_001308941.1:p.Gln320=
NM_001322013.1:c.1320G>A	NP_001308942.1:p.Gln440=
NM_001322014.1:c.1893G>A	NP_001308943.1:p.Gln631=
NM_001322015.1:c.1584G>A	NP_001308944.1:p.Gln528=
NR_136154.1:n.1980G>A
XM_006715744.4:c.960G>A	XP_006715807.1:p.Gln320=
XM_017012342.2:c.960G>A	XP_016867831.1:p.Gln320=
XM_024446800.1:c.1332G>A	XP_024302568.1:p.Gln444=
NM_000535.7:c.1893G>A MANE Select	NP_000526.2:p.Gln631=
NM_001322003.2:c.1488G>A	NP_001308932.1:p.Gln496=
NM_001322004.2:c.1488G>A	NP_001308933.1:p.Gln496=
NM_001322005.2:c.1488G>A	NP_001308934.1:p.Gln496=
NM_001322006.2:c.1737G>A	NP_001308935.1:p.Gln579=
NM_001322008.2:c.1575G>A	NP_001308937.1:p.Gln525=
NM_001322009.2:c.1488G>A	NP_001308938.1:p.Gln496=
NM_001322010.2:c.1332G>A	NP_001308939.1:p.Gln444=
NM_001322011.2:c.960G>A	NP_001308940.1:p.Gln320=
NM_001322012.2:c.960G>A	NP_001308941.1:p.Gln320=
NM_001322013.2:c.1320G>A	NP_001308942.1:p.Gln440=
NM_001322014.2:c.1893G>A	NP_001308943.1:p.Gln631=
NM_001322015.2:c.1584G>A	NP_001308944.1:p.Gln528=
NM_001322007.2:c.1575G>A	NP_001308936.1:p.Gln525=