Canonical Allele Identifier: CA366742349

Gene: PMS2

Linked Data

• ClinVar Variation Id: 654996
• ClinVar RCV Id: RCV000811078 ; RCV001010934 ; RCV001759565
• dbSNP Id: rs1187749040
• gnomAD v2: 7-6027080-G-A
• gnomAD v4: 7-5987449-G-A
• MyVariant Identifiers: chr7:g.6027080G>A (hg19) ; chr7:g.5987449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987449G>A , CM000669.2:g.5987449G>A	GRCh38
NC_000007.13:g.6027080G>A , CM000669.1:g.6027080G>A	GRCh37
NC_000007.12:g.5993606G>A	NCBI36
NG_008466.1:g.26658C>T , LRG_161:g.26658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*712C>T	ENSP00000514615.2:n.*712C>T
ENST00000699840.2:c.1313C>T	ENSP00000514638.2:p.Thr438Ile
ENST00000699930.2:c.1208C>T	ENSP00000514695.2:p.Thr403Ile
ENST00000406569.8:c.1316C>T	ENSP00000514464.1:p.Thr439Ile
ENST00000644110.2:c.*910C>T	ENSP00000496392.2:n.*910C>T
ENST00000699752.1:c.1160C>T	ENSP00000514561.1:p.Thr387Ile
ENST00000699753.1:c.*737C>T	ENSP00000514562.1:n.*737C>T
ENST00000699754.1:c.1118C>T	ENSP00000514563.1:p.Thr373Ile
ENST00000699755.1:c.*715C>T	ENSP00000514564.1:n.*715C>T
ENST00000699756.1:c.*903C>T	ENSP00000514565.1:n.*903C>T
ENST00000699757.1:c.*573C>T	ENSP00000514566.1:n.*573C>T
ENST00000699758.1:c.*573C>T	ENSP00000514567.1:n.*573C>T
ENST00000699759.1:n.2170C>T
ENST00000699760.1:c.998C>T	ENSP00000514568.1:p.Thr333Ile
ENST00000699761.1:c.911C>T	ENSP00000514569.1:p.Thr304Ile
ENST00000699762.1:c.743C>T	ENSP00000514570.1:p.Thr248Ile
ENST00000699763.1:c.*406C>T	ENSP00000514571.1:n.*406C>T
ENST00000699764.1:c.1316C>T	ENSP00000514572.1:p.Thr439Ile
ENST00000699765.1:c.*412C>T	ENSP00000514573.1:n.*412C>T
ENST00000699766.1:c.1316C>T	ENSP00000514574.1:p.Thr439Ile
ENST00000699767.1:c.1316C>T	ENSP00000514575.1:p.Thr439Ile
ENST00000699768.1:c.1316C>T	ENSP00000514576.1:p.Thr439Ile
ENST00000699811.1:c.911C>T	ENSP00000514614.1:p.Thr304Ile
ENST00000699813.1:n.1429C>T
ENST00000699814.1:c.939C>T
ENST00000699815.1:c.*847C>T	ENSP00000514616.1:n.*847C>T
ENST00000699816.1:c.*206C>T	ENSP00000514617.1:n.*206C>T
ENST00000699817.1:c.*910C>T	ENSP00000514618.1:n.*910C>T
ENST00000699818.1:c.911C>T	ENSP00000514619.1:p.Thr304Ile
ENST00000699819.1:c.*473C>T	ENSP00000514620.1:n.*473C>T
ENST00000699820.1:c.1144+2351C>T	ENSP00000514621.1:n.1144+2351C>T
ENST00000699821.1:c.911C>T	ENSP00000514622.1:p.Thr304Ile
ENST00000699822.1:c.*768C>T	ENSP00000514623.1:n.*768C>T
ENST00000699823.1:c.911C>T	ENSP00000514624.1:p.Thr304Ile
ENST00000699824.1:c.*819C>T	ENSP00000514625.1:n.*819C>T
ENST00000699825.1:c.755C>T	ENSP00000514626.1:p.Thr252Ile
ENST00000699826.1:c.*715C>T	ENSP00000514627.1:n.*715C>T
ENST00000699827.1:c.1148C>T	ENSP00000514628.1:p.Thr383Ile
ENST00000699828.1:c.*406C>T	ENSP00000514629.1:n.*406C>T
ENST00000699833.1:n.3088C>T
ENST00000699837.1:c.911C>T	ENSP00000514635.1:p.Thr304Ile
ENST00000699838.1:c.*1216C>T	ENSP00000514636.1:n.*1216C>T
ENST00000699839.1:c.1502C>T	ENSP00000514637.1:p.Thr501Ile
ENST00000699916.1:c.*573C>T	ENSP00000514684.1:n.*573C>T
ENST00000699917.1:c.*765C>T	ENSP00000514685.1:n.*765C>T
ENST00000699918.1:c.*817C>T	ENSP00000514686.1:n.*817C>T
ENST00000699919.1:c.*903C>T	ENSP00000514687.1:n.*903C>T
ENST00000699920.1:c.*952C>T	ENSP00000514688.1:n.*952C>T
ENST00000699928.1:c.989-4458C>T	ENSP00000514693.1:n.989-4458C>T
ENST00000699929.1:c.*617C>T	ENSP00000514694.1:n.*617C>T
ENST00000699930.1:c.1208C>T	ENSP00000514695.1:p.Thr403Ile
ENST00000699931.1:n.2744C>T
ENST00000699951.1:c.*412C>T	ENSP00000514706.1:n.*412C>T
ENST00000699952.1:c.803+9877C>T	ENSP00000514707.1:n.803+9877C>T
ENST00000699953.1:c.*423C>T	ENSP00000514708.1:n.*423C>T
ENST00000699954.1:c.*617C>T	ENSP00000514709.1:n.*617C>T
ENST00000265849.12:c.1316C>T MANE Select	ENSP00000265849.7:p.Thr439Ile
ENST00000642292.1:c.911C>T	ENSP00000495524.1:p.Thr304Ile
ENST00000642456.1:c.911C>T	ENSP00000493814.1:p.Thr304Ile
ENST00000643595.1:c.*715C>T	ENSP00000494497.1:n.*715C>T
ENST00000644110.1:c.998C>T	ENSP00000496392.1:p.Thr333Ile
ENST00000265849.11:c.1316C>T	ENSP00000265849.7:p.Thr439Ile
ENST00000382321.5:c.804-4458C>T	ENSP00000371758.4:n.804-4458C>T
ENST00000406569.7:n.1316C>T
ENST00000441476.6:c.998C>T	ENSP00000392843.2:p.Thr333Ile
ENST00000469652.1:n.63-4544C>T
NM_000535.5:c.1316C>T , LRG_161t1:c.1316C>T	NP_000526.1:p.Thr439Ile
NR_003085.2:n.1398C>T
XM_006715742.2:c.1310C>T	XP_006715805.1:p.Thr437Ile
XM_006715744.2:c.383C>T	XP_006715807.1:p.Thr128Ile
XM_011515427.1:c.1361C>T	XP_011513729.1:p.Thr454Ile
XM_011515428.1:c.1205C>T	XP_011513730.1:p.Thr402Ile
XM_011515429.1:c.998C>T	XP_011513731.1:p.Thr333Ile
XM_011515430.1:c.998C>T	XP_011513732.1:p.Thr333Ile
NM_000535.6:c.1316C>T	NP_000526.2:p.Thr439Ile
NM_001322003.1:c.911C>T	NP_001308932.1:p.Thr304Ile
NM_001322004.1:c.911C>T	NP_001308933.1:p.Thr304Ile
NM_001322005.1:c.911C>T	NP_001308934.1:p.Thr304Ile
NM_001322006.1:c.1160C>T	NP_001308935.1:p.Thr387Ile
NM_001322007.1:c.998C>T	NP_001308936.1:p.Thr333Ile
NM_001322008.1:c.998C>T	NP_001308937.1:p.Thr333Ile
NM_001322009.1:c.911C>T	NP_001308938.1:p.Thr304Ile
NM_001322010.1:c.755C>T	NP_001308939.1:p.Thr252Ile
NM_001322011.1:c.383C>T	NP_001308940.1:p.Thr128Ile
NM_001322012.1:c.383C>T	NP_001308941.1:p.Thr128Ile
NM_001322013.1:c.743C>T	NP_001308942.1:p.Thr248Ile
NM_001322014.1:c.1316C>T	NP_001308943.1:p.Thr439Ile
NM_001322015.1:c.1007C>T	NP_001308944.1:p.Thr336Ile
NR_136154.1:n.1403C>T
XM_006715744.4:c.383C>T	XP_006715807.1:p.Thr128Ile
XM_017012342.2:c.383C>T	XP_016867831.1:p.Thr128Ile
XM_024446800.1:c.755C>T	XP_024302568.1:p.Thr252Ile
NM_000535.7:c.1316C>T MANE Select	NP_000526.2:p.Thr439Ile
NM_001322003.2:c.911C>T	NP_001308932.1:p.Thr304Ile
NM_001322004.2:c.911C>T	NP_001308933.1:p.Thr304Ile
NM_001322005.2:c.911C>T	NP_001308934.1:p.Thr304Ile
NM_001322006.2:c.1160C>T	NP_001308935.1:p.Thr387Ile
NM_001322008.2:c.998C>T	NP_001308937.1:p.Thr333Ile
NM_001322009.2:c.911C>T	NP_001308938.1:p.Thr304Ile
NM_001322010.2:c.755C>T	NP_001308939.1:p.Thr252Ile
NM_001322011.2:c.383C>T	NP_001308940.1:p.Thr128Ile
NM_001322012.2:c.383C>T	NP_001308941.1:p.Thr128Ile
NM_001322013.2:c.743C>T	NP_001308942.1:p.Thr248Ile
NM_001322014.2:c.1316C>T	NP_001308943.1:p.Thr439Ile
NM_001322015.2:c.1007C>T	NP_001308944.1:p.Thr336Ile
NM_001322007.2:c.998C>T	NP_001308936.1:p.Thr333Ile