Canonical Allele Identifier: CA453745895

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2566070
• ClinVar RCV Id: RCV003293457
• dbSNP Id: rs1583315597
• MyVariant Identifiers: chr7:g.6026617C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986986C>T , CM000669.2:g.5986986C>T	GRCh38
NC_000007.13:g.6026617C>T , CM000669.1:g.6026617C>T	GRCh37
NC_000007.12:g.5993143C>T	NCBI36
NG_008466.1:g.27121G>A , LRG_161:g.27121G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1175G>A	ENSP00000514615.2:n.*1175G>A
ENST00000699840.2:c.1776G>A	ENSP00000514638.2:p.Lys592=
ENST00000699930.2:c.1671G>A	ENSP00000514695.2:p.Lys557=
ENST00000406569.8:c.1678+101G>A	ENSP00000514464.1:n.1678+101G>A
ENST00000644110.2:c.*1373G>A	ENSP00000496392.2:n.*1373G>A
ENST00000699752.1:c.1623G>A	ENSP00000514561.1:p.Lys541=
ENST00000699753.1:c.*1200G>A	ENSP00000514562.1:n.*1200G>A
ENST00000699754.1:c.1581G>A	ENSP00000514563.1:p.Lys527=
ENST00000699755.1:c.*1178G>A	ENSP00000514564.1:n.*1178G>A
ENST00000699756.1:c.*1366G>A	ENSP00000514565.1:n.*1366G>A
ENST00000699757.1:c.*1036G>A	ENSP00000514566.1:n.*1036G>A
ENST00000699758.1:c.*1036G>A	ENSP00000514567.1:n.*1036G>A
ENST00000699759.1:n.2633G>A
ENST00000699760.1:c.1461G>A	ENSP00000514568.1:p.Lys487=
ENST00000699761.1:c.1374G>A	ENSP00000514569.1:p.Lys458=
ENST00000699762.1:c.1206G>A	ENSP00000514570.1:p.Lys402=
ENST00000699763.1:c.*869G>A	ENSP00000514571.1:n.*869G>A
ENST00000699764.1:c.*97G>A	ENSP00000514572.1:n.*97G>A
ENST00000699765.1:c.*875G>A	ENSP00000514573.1:n.*875G>A
ENST00000699766.1:c.1779G>A	ENSP00000514574.1:p.Lys593=
ENST00000699767.1:c.1779G>A	ENSP00000514575.1:p.Lys593=
ENST00000699768.1:c.1779G>A	ENSP00000514576.1:p.Lys593=
ENST00000699811.1:c.1374G>A	ENSP00000514614.1:p.Lys458=
ENST00000699813.1:n.1892G>A
ENST00000699814.1:c.1402G>A
ENST00000699815.1:c.*1310G>A	ENSP00000514616.1:n.*1310G>A
ENST00000699816.1:c.*669G>A	ENSP00000514617.1:n.*669G>A
ENST00000699817.1:c.*1373G>A	ENSP00000514618.1:n.*1373G>A
ENST00000699818.1:c.1374G>A	ENSP00000514619.1:p.Lys458=
ENST00000699819.1:c.*936G>A	ENSP00000514620.1:n.*936G>A
ENST00000699820.1:c.1144+2814G>A	ENSP00000514621.1:n.1144+2814G>A
ENST00000699821.1:c.1374G>A	ENSP00000514622.1:p.Lys458=
ENST00000699822.1:c.*1231G>A	ENSP00000514623.1:n.*1231G>A
ENST00000699823.1:c.1374G>A	ENSP00000514624.1:p.Lys458=
ENST00000699824.1:c.*1282G>A	ENSP00000514625.1:n.*1282G>A
ENST00000699825.1:c.1218G>A	ENSP00000514626.1:p.Lys406=
ENST00000699826.1:c.*1178G>A	ENSP00000514627.1:n.*1178G>A
ENST00000699827.1:c.1611G>A	ENSP00000514628.1:p.Lys537=
ENST00000699828.1:c.*869G>A	ENSP00000514629.1:n.*869G>A
ENST00000699833.1:n.3551G>A
ENST00000699837.1:c.1374G>A	ENSP00000514635.1:p.Lys458=
ENST00000699838.1:c.*1679G>A	ENSP00000514636.1:n.*1679G>A
ENST00000699839.1:c.1965G>A	ENSP00000514637.1:p.Lys655=
ENST00000699916.1:c.*1036G>A	ENSP00000514684.1:n.*1036G>A
ENST00000699917.1:c.*1228G>A	ENSP00000514685.1:n.*1228G>A
ENST00000699918.1:c.*1280G>A	ENSP00000514686.1:n.*1280G>A
ENST00000699919.1:c.*1366G>A	ENSP00000514687.1:n.*1366G>A
ENST00000699920.1:c.*1415G>A	ENSP00000514688.1:n.*1415G>A
ENST00000699928.1:c.989-3995G>A	ENSP00000514693.1:n.989-3995G>A
ENST00000699929.1:c.*1080G>A	ENSP00000514694.1:n.*1080G>A
ENST00000699930.1:c.1671G>A	ENSP00000514695.1:p.Lys557=
ENST00000699931.1:n.3207G>A
ENST00000699951.1:c.*875G>A	ENSP00000514706.1:n.*875G>A
ENST00000699952.1:c.803+10340G>A	ENSP00000514707.1:n.803+10340G>A
ENST00000699953.1:c.*886G>A	ENSP00000514708.1:n.*886G>A
ENST00000699954.1:c.*1080G>A	ENSP00000514709.1:n.*1080G>A
ENST00000265849.12:c.1779G>A MANE Select	ENSP00000265849.7:p.Lys593=
ENST00000642292.1:c.1374G>A	ENSP00000495524.1:p.Lys458=
ENST00000642456.1:c.1374G>A	ENSP00000493814.1:p.Lys458=
ENST00000643595.1:c.*1178G>A	ENSP00000494497.1:n.*1178G>A
ENST00000644110.1:c.1461G>A	ENSP00000496392.1:p.Lys487=
ENST00000265849.11:c.1779G>A	ENSP00000265849.7:p.Lys593=
ENST00000382321.5:c.804-3995G>A	ENSP00000371758.4:n.804-3995G>A
ENST00000406569.7:n.1678+101G>A
ENST00000441476.6:c.1461G>A	ENSP00000392843.2:p.Lys487=
ENST00000469652.1:n.63-4081G>A
NM_000535.5:c.1779G>A , LRG_161t1:c.1779G>A	NP_000526.1:p.Lys593=
NR_003085.2:n.1861G>A
XM_006715742.2:c.1773G>A	XP_006715805.1:p.Lys591=
XM_006715744.2:c.846G>A	XP_006715807.1:p.Lys282=
XM_011515427.1:c.1824G>A	XP_011513729.1:p.Lys608=
XM_011515428.1:c.1668G>A	XP_011513730.1:p.Lys556=
XM_011515429.1:c.1461G>A	XP_011513731.1:p.Lys487=
XM_011515430.1:c.1461G>A	XP_011513732.1:p.Lys487=
NM_000535.6:c.1779G>A	NP_000526.2:p.Lys593=
NM_001322003.1:c.1374G>A	NP_001308932.1:p.Lys458=
NM_001322004.1:c.1374G>A	NP_001308933.1:p.Lys458=
NM_001322005.1:c.1374G>A	NP_001308934.1:p.Lys458=
NM_001322006.1:c.1623G>A	NP_001308935.1:p.Lys541=
NM_001322007.1:c.1461G>A	NP_001308936.1:p.Lys487=
NM_001322008.1:c.1461G>A	NP_001308937.1:p.Lys487=
NM_001322009.1:c.1374G>A	NP_001308938.1:p.Lys458=
NM_001322010.1:c.1218G>A	NP_001308939.1:p.Lys406=
NM_001322011.1:c.846G>A	NP_001308940.1:p.Lys282=
NM_001322012.1:c.846G>A	NP_001308941.1:p.Lys282=
NM_001322013.1:c.1206G>A	NP_001308942.1:p.Lys402=
NM_001322014.1:c.1779G>A	NP_001308943.1:p.Lys593=
NM_001322015.1:c.1470G>A	NP_001308944.1:p.Lys490=
NR_136154.1:n.1866G>A
XM_006715744.4:c.846G>A	XP_006715807.1:p.Lys282=
XM_017012342.2:c.846G>A	XP_016867831.1:p.Lys282=
XM_024446800.1:c.1218G>A	XP_024302568.1:p.Lys406=
NM_000535.7:c.1779G>A MANE Select	NP_000526.2:p.Lys593=
NM_001322003.2:c.1374G>A	NP_001308932.1:p.Lys458=
NM_001322004.2:c.1374G>A	NP_001308933.1:p.Lys458=
NM_001322005.2:c.1374G>A	NP_001308934.1:p.Lys458=
NM_001322006.2:c.1623G>A	NP_001308935.1:p.Lys541=
NM_001322008.2:c.1461G>A	NP_001308937.1:p.Lys487=
NM_001322009.2:c.1374G>A	NP_001308938.1:p.Lys458=
NM_001322010.2:c.1218G>A	NP_001308939.1:p.Lys406=
NM_001322011.2:c.846G>A	NP_001308940.1:p.Lys282=
NM_001322012.2:c.846G>A	NP_001308941.1:p.Lys282=
NM_001322013.2:c.1206G>A	NP_001308942.1:p.Lys402=
NM_001322014.2:c.1779G>A	NP_001308943.1:p.Lys593=
NM_001322015.2:c.1470G>A	NP_001308944.1:p.Lys490=
NM_001322007.2:c.1461G>A	NP_001308936.1:p.Lys487=