Canonical Allele Identifier: CA366735621

Gene: PMS2

Linked Data

• dbSNP Id: rs2128672084
• MyVariant Identifiers: chr7:g.6017245A>T (hg19) ; chr7:g.5977614A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977614A>T , CM000669.2:g.5977614A>T	GRCh38
NC_000007.13:g.6017245A>T , CM000669.1:g.6017245A>T	GRCh37
NC_000007.12:g.5983771A>T	NCBI36
NG_008466.1:g.36493T>A , LRG_161:g.36493T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1815T>A	ENSP00000514615.2:n.*1815T>A
ENST00000699840.2:c.2416T>A	ENSP00000514638.2:p.Phe806Ile
ENST00000699930.2:c.2311T>A	ENSP00000514695.2:p.Phe771Ile
ENST00000406569.8:c.1779T>A	ENSP00000514464.1:n.1779T>A
ENST00000644110.2:c.*2013T>A	ENSP00000496392.2:n.*2013T>A
ENST00000699752.1:c.2263T>A	ENSP00000514561.1:p.Phe755Ile
ENST00000699753.1:c.*1840T>A	ENSP00000514562.1:n.*1840T>A
ENST00000699754.1:c.2221T>A	ENSP00000514563.1:p.Phe741Ile
ENST00000699755.1:c.*1818T>A	ENSP00000514564.1:n.*1818T>A
ENST00000699756.1:c.*2006T>A	ENSP00000514565.1:n.*2006T>A
ENST00000699757.1:c.*1676T>A	ENSP00000514566.1:n.*1676T>A
ENST00000699758.1:c.*1676T>A	ENSP00000514567.1:n.*1676T>A
ENST00000699759.1:n.3273T>A
ENST00000699760.1:c.2101T>A	ENSP00000514568.1:p.Phe701Ile
ENST00000699761.1:c.2014T>A	ENSP00000514569.1:p.Phe672Ile
ENST00000699762.1:c.1846T>A	ENSP00000514570.1:p.Phe616Ile
ENST00000699763.1:c.*1509T>A	ENSP00000514571.1:n.*1509T>A
ENST00000699764.1:c.*737T>A	ENSP00000514572.1:n.*737T>A
ENST00000699765.1:c.*1414T>A	ENSP00000514573.1:n.*1414T>A
ENST00000699766.1:c.2452T>A	ENSP00000514574.1:p.Phe818Ile
ENST00000699767.1:c.*60T>A	ENSP00000514575.1:n.*60T>A
ENST00000699768.1:c.2275T>A	ENSP00000514576.1:p.Phe759Ile
ENST00000699811.1:c.2014T>A	ENSP00000514614.1:p.Phe672Ile
ENST00000699813.1:n.2532T>A
ENST00000699814.1:c.2042T>A
ENST00000699815.1:c.*1950T>A	ENSP00000514616.1:n.*1950T>A
ENST00000699816.1:c.*1309T>A	ENSP00000514617.1:n.*1309T>A
ENST00000699817.1:c.*2013T>A	ENSP00000514618.1:n.*2013T>A
ENST00000699818.1:c.2014T>A	ENSP00000514619.1:p.Phe672Ile
ENST00000699819.1:c.*1576T>A	ENSP00000514620.1:n.*1576T>A
ENST00000699820.1:c.*357T>A	ENSP00000514621.1:n.*357T>A
ENST00000699821.1:c.2047T>A	ENSP00000514622.1:p.Phe683Ile
ENST00000699822.1:c.*1871T>A	ENSP00000514623.1:n.*1871T>A
ENST00000699823.1:c.2014T>A	ENSP00000514624.1:p.Phe672Ile
ENST00000699824.1:c.*1922T>A	ENSP00000514625.1:n.*1922T>A
ENST00000699825.1:c.1858T>A	ENSP00000514626.1:p.Phe620Ile
ENST00000699826.1:c.*1818T>A	ENSP00000514627.1:n.*1818T>A
ENST00000699827.1:c.2251T>A	ENSP00000514628.1:p.Phe751Ile
ENST00000699828.1:c.*1509T>A	ENSP00000514629.1:n.*1509T>A
ENST00000699833.1:n.4191T>A
ENST00000699837.1:c.2014T>A	ENSP00000514635.1:p.Phe672Ile
ENST00000699838.1:c.*2319T>A	ENSP00000514636.1:n.*2319T>A
ENST00000699839.1:c.2605T>A	ENSP00000514637.1:p.Phe869Ile
ENST00000699916.1:c.*1676T>A	ENSP00000514684.1:n.*1676T>A
ENST00000699917.1:c.*1868T>A	ENSP00000514685.1:n.*1868T>A
ENST00000699918.1:c.*1920T>A	ENSP00000514686.1:n.*1920T>A
ENST00000699919.1:c.*2006T>A	ENSP00000514687.1:n.*2006T>A
ENST00000699920.1:c.*2055T>A	ENSP00000514688.1:n.*2055T>A
ENST00000699928.1:c.*357T>A	ENSP00000514693.1:n.*357T>A
ENST00000699951.1:c.*1472T>A	ENSP00000514706.1:n.*1472T>A
ENST00000699952.1:c.804-4072T>A	ENSP00000514707.1:n.804-4072T>A
ENST00000265849.12:c.2419T>A MANE Select	ENSP00000265849.7:p.Phe807Ile
ENST00000642292.1:c.2014T>A	ENSP00000495524.1:p.Phe672Ile
ENST00000642456.1:c.2014T>A	ENSP00000493814.1:p.Phe672Ile
ENST00000643595.1:c.*1818T>A	ENSP00000494497.1:n.*1818T>A
ENST00000644110.1:c.2101T>A	ENSP00000496392.1:p.Phe701Ile
ENST00000265849.11:c.2419T>A	ENSP00000265849.7:p.Phe807Ile
ENST00000382321.5:c.1216T>A	ENSP00000371758.4:p.Phe406Ile
ENST00000441476.6:c.2101T>A	ENSP00000392843.2:p.Phe701Ile
NM_000535.5:c.2419T>A , LRG_161t1:c.2419T>A	NP_000526.1:p.Phe807Ile
NR_003085.2:n.2501T>A
XM_006715742.2:c.2413T>A	XP_006715805.1:p.Phe805Ile
XM_006715744.2:c.1486T>A	XP_006715807.1:p.Phe496Ile
XM_011515427.1:c.2464T>A	XP_011513729.1:p.Phe822Ile
XM_011515428.1:c.2308T>A	XP_011513730.1:p.Phe770Ile
XM_011515429.1:c.2101T>A	XP_011513731.1:p.Phe701Ile
XM_011515430.1:c.2101T>A	XP_011513732.1:p.Phe701Ile
NM_000535.6:c.2419T>A	NP_000526.2:p.Phe807Ile
NM_001322003.1:c.2014T>A	NP_001308932.1:p.Phe672Ile
NM_001322004.1:c.2014T>A	NP_001308933.1:p.Phe672Ile
NM_001322005.1:c.2014T>A	NP_001308934.1:p.Phe672Ile
NM_001322006.1:c.2263T>A	NP_001308935.1:p.Phe755Ile
NM_001322007.1:c.2101T>A	NP_001308936.1:p.Phe701Ile
NM_001322008.1:c.2101T>A	NP_001308937.1:p.Phe701Ile
NM_001322009.1:c.2047T>A	NP_001308938.1:p.Phe683Ile
NM_001322010.1:c.1858T>A	NP_001308939.1:p.Phe620Ile
NM_001322011.1:c.1486T>A	NP_001308940.1:p.Phe496Ile
NM_001322012.1:c.1486T>A	NP_001308941.1:p.Phe496Ile
NM_001322013.1:c.1846T>A	NP_001308942.1:p.Phe616Ile
NM_001322014.1:c.2452T>A	NP_001308943.1:p.Phe818Ile
NM_001322015.1:c.2110T>A	NP_001308944.1:p.Phe704Ile
NR_136154.1:n.2463T>A
XM_006715744.4:c.1486T>A	XP_006715807.1:p.Phe496Ile
XM_017012342.2:c.1486T>A	XP_016867831.1:p.Phe496Ile
XM_024446800.1:c.1858T>A	XP_024302568.1:p.Phe620Ile
NM_000535.7:c.2419T>A MANE Select	NP_000526.2:p.Phe807Ile
NM_001322003.2:c.2014T>A	NP_001308932.1:p.Phe672Ile
NM_001322004.2:c.2014T>A	NP_001308933.1:p.Phe672Ile
NM_001322005.2:c.2014T>A	NP_001308934.1:p.Phe672Ile
NM_001322006.2:c.2263T>A	NP_001308935.1:p.Phe755Ile
NM_001322008.2:c.2101T>A	NP_001308937.1:p.Phe701Ile
NM_001322009.2:c.2047T>A	NP_001308938.1:p.Phe683Ile
NM_001322010.2:c.1858T>A	NP_001308939.1:p.Phe620Ile
NM_001322011.2:c.1486T>A	NP_001308940.1:p.Phe496Ile
NM_001322012.2:c.1486T>A	NP_001308941.1:p.Phe496Ile
NM_001322013.2:c.1846T>A	NP_001308942.1:p.Phe616Ile
NM_001322014.2:c.2452T>A	NP_001308943.1:p.Phe818Ile
NM_001322015.2:c.2110T>A	NP_001308944.1:p.Phe704Ile
NM_001322007.2:c.2101T>A	NP_001308936.1:p.Phe701Ile