Canonical Allele Identifier: CA012989

Gene: PMS2

Linked Data

• ClinVar Variation Id: 142718
• ClinVar RCV Id: RCV000132089 ; RCV000212853 ; RCV000532624
• dbSNP Id: rs587782668
• gnomAD v4: 7-5995601-C-A
• MyVariant Identifiers: chr7:g.6035232C>A (hg19) ; chr7:g.5995601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5995601C>A , CM000669.2:g.5995601C>A	GRCh38
NC_000007.13:g.6035232C>A , CM000669.1:g.6035232C>A	GRCh37
NC_000007.12:g.6001758C>A	NCBI36
NG_008466.1:g.18506G>T , LRG_161:g.18506G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*299+3507G>T	ENSP00000514615.2:n.*299+3507G>T
ENST00000699840.2:c.833G>T	ENSP00000514638.2:p.Gly278Val
ENST00000699930.2:c.728G>T	ENSP00000514695.2:p.Gly243Val
ENST00000406569.8:c.836G>T	ENSP00000514464.1:p.Gly279Val
ENST00000644110.2:c.*430G>T	ENSP00000496392.2:n.*430G>T
ENST00000699752.1:c.836G>T	ENSP00000514561.1:p.Gly279Val
ENST00000699753.1:c.*202+1725G>T	ENSP00000514562.1:n.*202+1725G>T
ENST00000699754.1:c.705+3507G>T	ENSP00000514563.1:n.705+3507G>T
ENST00000699755.1:c.*235G>T	ENSP00000514564.1:n.*235G>T
ENST00000699756.1:c.*423G>T	ENSP00000514565.1:n.*423G>T
ENST00000699757.1:c.*93G>T	ENSP00000514566.1:n.*93G>T
ENST00000699758.1:c.*93G>T	ENSP00000514567.1:n.*93G>T
ENST00000699759.1:n.908G>T
ENST00000699760.1:c.518G>T	ENSP00000514568.1:p.Gly173Val
ENST00000699761.1:c.431G>T	ENSP00000514569.1:p.Gly144Val
ENST00000699762.1:c.263G>T	ENSP00000514570.1:p.Gly88Val
ENST00000699763.1:c.431G>T	ENSP00000514571.1:p.Gly144Val
ENST00000699764.1:c.836G>T	ENSP00000514572.1:p.Gly279Val
ENST00000699765.1:c.485+1725G>T	ENSP00000514573.1:n.485+1725G>T
ENST00000699766.1:c.836G>T	ENSP00000514574.1:p.Gly279Val
ENST00000699767.1:c.836G>T	ENSP00000514575.1:p.Gly279Val
ENST00000699768.1:c.836G>T	ENSP00000514576.1:p.Gly279Val
ENST00000699811.1:c.431G>T	ENSP00000514614.1:p.Gly144Val
ENST00000699813.1:n.949G>T
ENST00000699814.1:c.526+3507G>T
ENST00000699815.1:c.*305-997G>T	ENSP00000514616.1:n.*305-997G>T
ENST00000699816.1:c.431G>T	ENSP00000514617.1:p.Gly144Val
ENST00000699817.1:c.*430G>T	ENSP00000514618.1:n.*430G>T
ENST00000699818.1:c.431G>T	ENSP00000514619.1:p.Gly144Val
ENST00000699819.1:c.*60+1725G>T	ENSP00000514620.1:n.*60+1725G>T
ENST00000699820.1:c.836G>T	ENSP00000514621.1:p.Gly279Val
ENST00000699821.1:c.431G>T	ENSP00000514622.1:p.Gly144Val
ENST00000699822.1:c.*288G>T	ENSP00000514623.1:n.*288G>T
ENST00000699823.1:c.431G>T	ENSP00000514624.1:p.Gly144Val
ENST00000699824.1:c.*339G>T	ENSP00000514625.1:n.*339G>T
ENST00000699825.1:c.431G>T	ENSP00000514626.1:p.Gly144Val
ENST00000699826.1:c.*235G>T	ENSP00000514627.1:n.*235G>T
ENST00000699827.1:c.668G>T	ENSP00000514628.1:p.Gly223Val
ENST00000699828.1:c.836G>T	ENSP00000514629.1:p.Gly279Val
ENST00000699829.1:c.*337G>T	ENSP00000514630.1:n.*337G>T
ENST00000699830.1:c.*235G>T	ENSP00000514631.1:n.*235G>T
ENST00000699833.1:n.2608G>T
ENST00000699837.1:c.431G>T	ENSP00000514635.1:p.Gly144Val
ENST00000699838.1:c.*736G>T	ENSP00000514636.1:n.*736G>T
ENST00000699839.1:c.1022G>T	ENSP00000514637.1:p.Gly341Val
ENST00000699840.1:c.833G>T	ENSP00000514638.1:p.Gly278Val
ENST00000699916.1:c.*93G>T	ENSP00000514684.1:n.*93G>T
ENST00000699917.1:c.*285G>T	ENSP00000514685.1:n.*285G>T
ENST00000699918.1:c.*337G>T	ENSP00000514686.1:n.*337G>T
ENST00000699919.1:c.*423G>T	ENSP00000514687.1:n.*423G>T
ENST00000699920.1:c.*472G>T	ENSP00000514688.1:n.*472G>T
ENST00000699928.1:c.836G>T	ENSP00000514693.1:p.Gly279Val
ENST00000699929.1:c.*137G>T	ENSP00000514694.1:n.*137G>T
ENST00000699930.1:c.728G>T	ENSP00000514695.1:p.Gly243Val
ENST00000699931.1:n.947G>T
ENST00000699932.1:c.803+1725G>T	ENSP00000514696.1:n.803+1725G>T
ENST00000699933.1:n.883+1725G>T
ENST00000699951.1:c.803+1725G>T	ENSP00000514706.1:n.803+1725G>T
ENST00000699952.1:c.803+1725G>T	ENSP00000514707.1:n.803+1725G>T
ENST00000699953.1:c.738G>T	ENSP00000514708.1:p.Trp246Cys
ENST00000699954.1:c.*137G>T	ENSP00000514709.1:n.*137G>T
ENST00000265849.12:c.836G>T MANE Select	ENSP00000265849.7:p.Gly279Val
ENST00000642292.1:c.431G>T	ENSP00000495524.1:p.Gly144Val
ENST00000642456.1:c.431G>T	ENSP00000493814.1:p.Gly144Val
ENST00000643595.1:c.*235G>T	ENSP00000494497.1:n.*235G>T
ENST00000644110.1:c.518G>T	ENSP00000496392.1:p.Gly173Val
ENST00000265849.11:c.836G>T	ENSP00000265849.7:p.Gly279Val
ENST00000382321.5:c.803+1725G>T	ENSP00000371758.4:n.803+1725G>T
ENST00000406569.7:n.836G>T
ENST00000441476.6:c.518G>T	ENSP00000392843.2:p.Gly173Val
ENST00000469652.1:n.62+10392G>T
NM_000535.5:c.836G>T , LRG_161t1:c.836G>T	NP_000526.1:p.Gly279Val
NR_003085.2:n.918G>T
XM_006715742.2:c.830G>T	XP_006715805.1:p.Gly277Val
XM_011515427.1:c.881G>T	XP_011513729.1:p.Gly294Val
XM_011515428.1:c.881G>T	XP_011513730.1:p.Gly294Val
XM_011515429.1:c.518G>T	XP_011513731.1:p.Gly173Val
XM_011515430.1:c.518G>T	XP_011513732.1:p.Gly173Val
NM_000535.6:c.836G>T	NP_000526.2:p.Gly279Val
NM_001322003.1:c.431G>T	NP_001308932.1:p.Gly144Val
NM_001322004.1:c.431G>T	NP_001308933.1:p.Gly144Val
NM_001322005.1:c.431G>T	NP_001308934.1:p.Gly144Val
NM_001322006.1:c.836G>T	NP_001308935.1:p.Gly279Val
NM_001322007.1:c.518G>T	NP_001308936.1:p.Gly173Val
NM_001322008.1:c.518G>T	NP_001308937.1:p.Gly173Val
NM_001322009.1:c.431G>T	NP_001308938.1:p.Gly144Val
NM_001322010.1:c.431G>T	NP_001308939.1:p.Gly144Val
NM_001322011.1:c.-98G>T	NP_001308940.1:n.-98G>T
NM_001322012.1:c.-98G>T	NP_001308941.1:n.-98G>T
NM_001322013.1:c.263G>T	NP_001308942.1:p.Gly88Val
NM_001322014.1:c.836G>T	NP_001308943.1:p.Gly279Val
NM_001322015.1:c.527G>T	NP_001308944.1:p.Gly176Val
NR_136154.1:n.923G>T
XM_017012342.2:c.-31+1725G>T	XP_016867831.1:n.-31+1725G>T
XM_024446800.1:c.431G>T	XP_024302568.1:p.Gly144Val
NM_000535.7:c.836G>T MANE Select	NP_000526.2:p.Gly279Val
NM_001322003.2:c.431G>T	NP_001308932.1:p.Gly144Val
NM_001322004.2:c.431G>T	NP_001308933.1:p.Gly144Val
NM_001322005.2:c.431G>T	NP_001308934.1:p.Gly144Val
NM_001322006.2:c.836G>T	NP_001308935.1:p.Gly279Val
NM_001322008.2:c.518G>T	NP_001308937.1:p.Gly173Val
NM_001322009.2:c.431G>T	NP_001308938.1:p.Gly144Val
NM_001322010.2:c.431G>T	NP_001308939.1:p.Gly144Val
NM_001322011.2:c.-98G>T	NP_001308940.1:n.-98G>T
NM_001322012.2:c.-98G>T	NP_001308941.1:n.-98G>T
NM_001322013.2:c.263G>T	NP_001308942.1:p.Gly88Val
NM_001322014.2:c.836G>T	NP_001308943.1:p.Gly279Val
NM_001322015.2:c.527G>T	NP_001308944.1:p.Gly176Val
NM_001322007.2:c.518G>T	NP_001308936.1:p.Gly173Val