Canonical Allele Identifier: CA453642998

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1786910
• ClinVar RCV Id: RCV002432596 ; RCV003759712
• dbSNP Id: rs546441038
• MyVariant Identifiers: chr7:g.6022469C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982838C>A , CM000669.2:g.5982838C>A	GRCh38
NC_000007.13:g.6022469C>A , CM000669.1:g.6022469C>A	GRCh37
NC_000007.12:g.5988995C>A	NCBI36
NG_008466.1:g.31269G>T , LRG_161:g.31269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1556G>T	ENSP00000514615.2:n.*1556G>T
ENST00000699840.2:c.2157G>T	ENSP00000514638.2:p.Gly719=
ENST00000699930.2:c.2052G>T	ENSP00000514695.2:p.Gly684=
ENST00000406569.8:c.1678+4249G>T	ENSP00000514464.1:n.1678+4249G>T
ENST00000644110.2:c.*1754G>T	ENSP00000496392.2:n.*1754G>T
ENST00000699752.1:c.2004G>T	ENSP00000514561.1:p.Gly668=
ENST00000699753.1:c.*1581G>T	ENSP00000514562.1:n.*1581G>T
ENST00000699754.1:c.1962G>T	ENSP00000514563.1:p.Gly654=
ENST00000699755.1:c.*1559G>T	ENSP00000514564.1:n.*1559G>T
ENST00000699756.1:c.*1747G>T	ENSP00000514565.1:n.*1747G>T
ENST00000699757.1:c.*1417G>T	ENSP00000514566.1:n.*1417G>T
ENST00000699758.1:c.*1417G>T	ENSP00000514567.1:n.*1417G>T
ENST00000699759.1:n.3014G>T
ENST00000699760.1:c.1842G>T	ENSP00000514568.1:p.Gly614=
ENST00000699761.1:c.1755G>T	ENSP00000514569.1:p.Gly585=
ENST00000699762.1:c.1587G>T	ENSP00000514570.1:p.Gly529=
ENST00000699763.1:c.*1250G>T	ENSP00000514571.1:n.*1250G>T
ENST00000699764.1:c.*478G>T	ENSP00000514572.1:n.*478G>T
ENST00000699765.1:c.*1256G>T	ENSP00000514573.1:n.*1256G>T
ENST00000699766.1:c.2160G>T	ENSP00000514574.1:p.Gly720=
ENST00000699767.1:c.2160G>T	ENSP00000514575.1:p.Gly720=
ENST00000699768.1:c.2160G>T	ENSP00000514576.1:p.Gly720=
ENST00000699811.1:c.1755G>T	ENSP00000514614.1:p.Gly585=
ENST00000699813.1:n.2273G>T
ENST00000699814.1:c.1783G>T
ENST00000699815.1:c.*1691G>T	ENSP00000514616.1:n.*1691G>T
ENST00000699816.1:c.*1050G>T	ENSP00000514617.1:n.*1050G>T
ENST00000699817.1:c.*1754G>T	ENSP00000514618.1:n.*1754G>T
ENST00000699818.1:c.1755G>T	ENSP00000514619.1:p.Gly585=
ENST00000699819.1:c.*1317G>T	ENSP00000514620.1:n.*1317G>T
ENST00000699820.1:c.*98G>T	ENSP00000514621.1:n.*98G>T
ENST00000699821.1:c.1755G>T	ENSP00000514622.1:p.Gly585=
ENST00000699822.1:c.*1612G>T	ENSP00000514623.1:n.*1612G>T
ENST00000699823.1:c.1755G>T	ENSP00000514624.1:p.Gly585=
ENST00000699824.1:c.*1663G>T	ENSP00000514625.1:n.*1663G>T
ENST00000699825.1:c.1599G>T	ENSP00000514626.1:p.Gly533=
ENST00000699826.1:c.*1559G>T	ENSP00000514627.1:n.*1559G>T
ENST00000699827.1:c.1992G>T	ENSP00000514628.1:p.Gly664=
ENST00000699828.1:c.*1250G>T	ENSP00000514629.1:n.*1250G>T
ENST00000699833.1:n.3932G>T
ENST00000699837.1:c.1755G>T	ENSP00000514635.1:p.Gly585=
ENST00000699838.1:c.*2060G>T	ENSP00000514636.1:n.*2060G>T
ENST00000699839.1:c.2346G>T	ENSP00000514637.1:p.Gly782=
ENST00000699916.1:c.*1417G>T	ENSP00000514684.1:n.*1417G>T
ENST00000699917.1:c.*1609G>T	ENSP00000514685.1:n.*1609G>T
ENST00000699918.1:c.*1661G>T	ENSP00000514686.1:n.*1661G>T
ENST00000699919.1:c.*1747G>T	ENSP00000514687.1:n.*1747G>T
ENST00000699920.1:c.*1796G>T	ENSP00000514688.1:n.*1796G>T
ENST00000699928.1:c.*98G>T	ENSP00000514693.1:n.*98G>T
ENST00000699951.1:c.*1256G>T	ENSP00000514706.1:n.*1256G>T
ENST00000699952.1:c.804-9296G>T	ENSP00000514707.1:n.804-9296G>T
ENST00000265849.12:c.2160G>T MANE Select	ENSP00000265849.7:p.Gly720=
ENST00000642292.1:c.1755G>T	ENSP00000495524.1:p.Gly585=
ENST00000642456.1:c.1755G>T	ENSP00000493814.1:p.Gly585=
ENST00000643595.1:c.*1559G>T	ENSP00000494497.1:n.*1559G>T
ENST00000644110.1:c.1842G>T	ENSP00000496392.1:p.Gly614=
ENST00000265849.11:c.2160G>T	ENSP00000265849.7:p.Gly720=
ENST00000382321.5:c.957G>T	ENSP00000371758.4:p.Gly319=
ENST00000406569.7:n.1678+4249G>T
ENST00000441476.6:c.1842G>T	ENSP00000392843.2:p.Gly614=
NM_000535.5:c.2160G>T , LRG_161t1:c.2160G>T	NP_000526.1:p.Gly720=
NR_003085.2:n.2242G>T
XM_006715742.2:c.2154G>T	XP_006715805.1:p.Gly718=
XM_006715744.2:c.1227G>T	XP_006715807.1:p.Gly409=
XM_011515427.1:c.2205G>T	XP_011513729.1:p.Gly735=
XM_011515428.1:c.2049G>T	XP_011513730.1:p.Gly683=
XM_011515429.1:c.1842G>T	XP_011513731.1:p.Gly614=
XM_011515430.1:c.1842G>T	XP_011513732.1:p.Gly614=
NM_000535.6:c.2160G>T	NP_000526.2:p.Gly720=
NM_001322003.1:c.1755G>T	NP_001308932.1:p.Gly585=
NM_001322004.1:c.1755G>T	NP_001308933.1:p.Gly585=
NM_001322005.1:c.1755G>T	NP_001308934.1:p.Gly585=
NM_001322006.1:c.2004G>T	NP_001308935.1:p.Gly668=
NM_001322007.1:c.1842G>T	NP_001308936.1:p.Gly614=
NM_001322008.1:c.1842G>T	NP_001308937.1:p.Gly614=
NM_001322009.1:c.1755G>T	NP_001308938.1:p.Gly585=
NM_001322010.1:c.1599G>T	NP_001308939.1:p.Gly533=
NM_001322011.1:c.1227G>T	NP_001308940.1:p.Gly409=
NM_001322012.1:c.1227G>T	NP_001308941.1:p.Gly409=
NM_001322013.1:c.1587G>T	NP_001308942.1:p.Gly529=
NM_001322014.1:c.2160G>T	NP_001308943.1:p.Gly720=
NM_001322015.1:c.1851G>T	NP_001308944.1:p.Gly617=
NR_136154.1:n.2247G>T
XM_006715744.4:c.1227G>T	XP_006715807.1:p.Gly409=
XM_017012342.2:c.1227G>T	XP_016867831.1:p.Gly409=
XM_024446800.1:c.1599G>T	XP_024302568.1:p.Gly533=
NM_000535.7:c.2160G>T MANE Select	NP_000526.2:p.Gly720=
NM_001322003.2:c.1755G>T	NP_001308932.1:p.Gly585=
NM_001322004.2:c.1755G>T	NP_001308933.1:p.Gly585=
NM_001322005.2:c.1755G>T	NP_001308934.1:p.Gly585=
NM_001322006.2:c.2004G>T	NP_001308935.1:p.Gly668=
NM_001322008.2:c.1842G>T	NP_001308937.1:p.Gly614=
NM_001322009.2:c.1755G>T	NP_001308938.1:p.Gly585=
NM_001322010.2:c.1599G>T	NP_001308939.1:p.Gly533=
NM_001322011.2:c.1227G>T	NP_001308940.1:p.Gly409=
NM_001322012.2:c.1227G>T	NP_001308941.1:p.Gly409=
NM_001322013.2:c.1587G>T	NP_001308942.1:p.Gly529=
NM_001322014.2:c.2160G>T	NP_001308943.1:p.Gly720=
NM_001322015.2:c.1851G>T	NP_001308944.1:p.Gly617=
NM_001322007.2:c.1842G>T	NP_001308936.1:p.Gly614=