Canonical Allele Identifier: CA453641999

Gene: PMS2

Linked Data

• gnomAD v4: 7-5973420-C-T
• MyVariant Identifiers: chr7:g.6013051C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973420C>T , CM000669.2:g.5973420C>T	GRCh38
NC_000007.13:g.6013051C>T , CM000669.1:g.6013051C>T	GRCh37
NC_000007.12:g.5979577C>T	NCBI36
NG_008466.1:g.40687G>A , LRG_161:g.40687G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1964G>A	ENSP00000514615.2:n.*1964G>A
ENST00000699840.2:c.2565G>A	ENSP00000514638.2:p.Leu855=
ENST00000699930.2:c.2460G>A	ENSP00000514695.2:p.Leu820=
ENST00000406569.8:c.1928G>A	ENSP00000514464.1:n.1928G>A
ENST00000644110.2:c.*2162G>A	ENSP00000496392.2:n.*2162G>A
ENST00000699752.1:c.2412G>A	ENSP00000514561.1:p.Leu804=
ENST00000699753.1:c.*1989G>A	ENSP00000514562.1:n.*1989G>A
ENST00000699754.1:c.2370G>A	ENSP00000514563.1:p.Leu790=
ENST00000699755.1:c.*1967G>A	ENSP00000514564.1:n.*1967G>A
ENST00000699756.1:c.*2155G>A	ENSP00000514565.1:n.*2155G>A
ENST00000699757.1:c.*1825G>A	ENSP00000514566.1:n.*1825G>A
ENST00000699758.1:c.*1825G>A	ENSP00000514567.1:n.*1825G>A
ENST00000699759.1:n.3422G>A
ENST00000699760.1:c.2250G>A	ENSP00000514568.1:p.Leu750=
ENST00000699761.1:c.2163G>A	ENSP00000514569.1:p.Leu721=
ENST00000699762.1:c.1995G>A	ENSP00000514570.1:p.Leu665=
ENST00000699763.1:c.*1658G>A	ENSP00000514571.1:n.*1658G>A
ENST00000699764.1:c.*886G>A	ENSP00000514572.1:n.*886G>A
ENST00000699765.1:c.*1563G>A	ENSP00000514573.1:n.*1563G>A
ENST00000699766.1:c.2601G>A	ENSP00000514574.1:p.Leu867=
ENST00000699767.1:c.*209G>A	ENSP00000514575.1:n.*209G>A
ENST00000699768.1:c.2424G>A	ENSP00000514576.1:p.Leu808=
ENST00000699811.1:c.2163G>A	ENSP00000514614.1:p.Leu721=
ENST00000699813.1:n.2681G>A
ENST00000699814.1:c.2191G>A
ENST00000699815.1:c.*2099G>A	ENSP00000514616.1:n.*2099G>A
ENST00000699816.1:c.*1458G>A	ENSP00000514617.1:n.*1458G>A
ENST00000699817.1:c.*2162G>A	ENSP00000514618.1:n.*2162G>A
ENST00000699818.1:c.2163G>A	ENSP00000514619.1:p.Leu721=
ENST00000699819.1:c.*1725G>A	ENSP00000514620.1:n.*1725G>A
ENST00000699820.1:c.*506G>A	ENSP00000514621.1:n.*506G>A
ENST00000699821.1:c.2196G>A	ENSP00000514622.1:p.Leu732=
ENST00000699822.1:c.*2020G>A	ENSP00000514623.1:n.*2020G>A
ENST00000699823.1:c.2163G>A	ENSP00000514624.1:p.Leu721=
ENST00000699824.1:c.*2071G>A	ENSP00000514625.1:n.*2071G>A
ENST00000699825.1:c.2007G>A	ENSP00000514626.1:p.Leu669=
ENST00000699826.1:c.*1967G>A	ENSP00000514627.1:n.*1967G>A
ENST00000699827.1:c.2400G>A	ENSP00000514628.1:p.Leu800=
ENST00000699828.1:c.*1658G>A	ENSP00000514629.1:n.*1658G>A
ENST00000699833.1:n.4340G>A
ENST00000699837.1:c.2163G>A	ENSP00000514635.1:p.Leu721=
ENST00000699838.1:c.*2468G>A	ENSP00000514636.1:n.*2468G>A
ENST00000699839.1:c.2754G>A	ENSP00000514637.1:p.Leu918=
ENST00000699916.1:c.*1825G>A	ENSP00000514684.1:n.*1825G>A
ENST00000699917.1:c.*2017G>A	ENSP00000514685.1:n.*2017G>A
ENST00000699918.1:c.*2069G>A	ENSP00000514686.1:n.*2069G>A
ENST00000699919.1:c.*2155G>A	ENSP00000514687.1:n.*2155G>A
ENST00000699920.1:c.*2204G>A	ENSP00000514688.1:n.*2204G>A
ENST00000699928.1:c.*506G>A	ENSP00000514693.1:n.*506G>A
ENST00000699951.1:c.*1621G>A	ENSP00000514706.1:n.*1621G>A
ENST00000699952.1:c.*122G>A	ENSP00000514707.1:n.*122G>A
ENST00000265849.12:c.2568G>A MANE Select	ENSP00000265849.7:p.Leu856=
ENST00000642292.1:c.2163G>A	ENSP00000495524.1:p.Leu721=
ENST00000642456.1:c.2163G>A	ENSP00000493814.1:p.Leu721=
ENST00000643595.1:c.*1967G>A	ENSP00000494497.1:n.*1967G>A
ENST00000644110.1:c.2250G>A	ENSP00000496392.1:p.Leu750=
ENST00000265849.11:c.2568G>A	ENSP00000265849.7:p.Leu856=
ENST00000382321.5:c.1365G>A	ENSP00000371758.4:p.Leu455=
ENST00000441476.6:c.2250G>A	ENSP00000392843.2:p.Leu750=
NM_000535.5:c.2568G>A , LRG_161t1:c.2568G>A	NP_000526.1:p.Leu856=
NR_003085.2:n.2650G>A
XM_006715742.2:c.2562G>A	XP_006715805.1:p.Leu854=
XM_006715744.2:c.1635G>A	XP_006715807.1:p.Leu545=
XM_011515427.1:c.2613G>A	XP_011513729.1:p.Leu871=
XM_011515428.1:c.2457G>A	XP_011513730.1:p.Leu819=
XM_011515429.1:c.2250G>A	XP_011513731.1:p.Leu750=
XM_011515430.1:c.2250G>A	XP_011513732.1:p.Leu750=
NM_000535.6:c.2568G>A	NP_000526.2:p.Leu856=
NM_001322003.1:c.2163G>A	NP_001308932.1:p.Leu721=
NM_001322004.1:c.2163G>A	NP_001308933.1:p.Leu721=
NM_001322005.1:c.2163G>A	NP_001308934.1:p.Leu721=
NM_001322006.1:c.2412G>A	NP_001308935.1:p.Leu804=
NM_001322007.1:c.2250G>A	NP_001308936.1:p.Leu750=
NM_001322008.1:c.2250G>A	NP_001308937.1:p.Leu750=
NM_001322009.1:c.2196G>A	NP_001308938.1:p.Leu732=
NM_001322010.1:c.2007G>A	NP_001308939.1:p.Leu669=
NM_001322011.1:c.1635G>A	NP_001308940.1:p.Leu545=
NM_001322012.1:c.1635G>A	NP_001308941.1:p.Leu545=
NM_001322013.1:c.1995G>A	NP_001308942.1:p.Leu665=
NM_001322014.1:c.2601G>A	NP_001308943.1:p.Leu867=
NM_001322015.1:c.2259G>A	NP_001308944.1:p.Leu753=
NR_136154.1:n.2612G>A
XM_006715744.4:c.1635G>A	XP_006715807.1:p.Leu545=
XM_017012342.2:c.1635G>A	XP_016867831.1:p.Leu545=
XM_024446800.1:c.2007G>A	XP_024302568.1:p.Leu669=
NM_000535.7:c.2568G>A MANE Select	NP_000526.2:p.Leu856=
NM_001322003.2:c.2163G>A	NP_001308932.1:p.Leu721=
NM_001322004.2:c.2163G>A	NP_001308933.1:p.Leu721=
NM_001322005.2:c.2163G>A	NP_001308934.1:p.Leu721=
NM_001322006.2:c.2412G>A	NP_001308935.1:p.Leu804=
NM_001322008.2:c.2250G>A	NP_001308937.1:p.Leu750=
NM_001322009.2:c.2196G>A	NP_001308938.1:p.Leu732=
NM_001322010.2:c.2007G>A	NP_001308939.1:p.Leu669=
NM_001322011.2:c.1635G>A	NP_001308940.1:p.Leu545=
NM_001322012.2:c.1635G>A	NP_001308941.1:p.Leu545=
NM_001322013.2:c.1995G>A	NP_001308942.1:p.Leu665=
NM_001322014.2:c.2601G>A	NP_001308943.1:p.Leu867=
NM_001322015.2:c.2259G>A	NP_001308944.1:p.Leu753=
NM_001322007.2:c.2250G>A	NP_001308936.1:p.Leu750=