Canonical Allele Identifier: CA366742332

Gene: PMS2

Linked Data

• ClinVar Variation Id: 999060
• ClinVar RCV Id: RCV001295008 ; RCV002379986
• dbSNP Id: rs1783134322
• MyVariant Identifiers: chr7:g.6027072G>A (hg19) ; chr7:g.5987441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987441G>A , CM000669.2:g.5987441G>A	GRCh38
NC_000007.13:g.6027072G>A , CM000669.1:g.6027072G>A	GRCh37
NC_000007.12:g.5993598G>A	NCBI36
NG_008466.1:g.26666C>T , LRG_161:g.26666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*720C>T	ENSP00000514615.2:n.*720C>T
ENST00000699840.2:c.1321C>T	ENSP00000514638.2:p.Pro441Ser
ENST00000699930.2:c.1216C>T	ENSP00000514695.2:p.Pro406Ser
ENST00000406569.8:c.1324C>T	ENSP00000514464.1:p.Pro442Ser
ENST00000644110.2:c.*918C>T	ENSP00000496392.2:n.*918C>T
ENST00000699752.1:c.1168C>T	ENSP00000514561.1:p.Pro390Ser
ENST00000699753.1:c.*745C>T	ENSP00000514562.1:n.*745C>T
ENST00000699754.1:c.1126C>T	ENSP00000514563.1:p.Pro376Ser
ENST00000699755.1:c.*723C>T	ENSP00000514564.1:n.*723C>T
ENST00000699756.1:c.*911C>T	ENSP00000514565.1:n.*911C>T
ENST00000699757.1:c.*581C>T	ENSP00000514566.1:n.*581C>T
ENST00000699758.1:c.*581C>T	ENSP00000514567.1:n.*581C>T
ENST00000699759.1:n.2178C>T
ENST00000699760.1:c.1006C>T	ENSP00000514568.1:p.Pro336Ser
ENST00000699761.1:c.919C>T	ENSP00000514569.1:p.Pro307Ser
ENST00000699762.1:c.751C>T	ENSP00000514570.1:p.Pro251Ser
ENST00000699763.1:c.*414C>T	ENSP00000514571.1:n.*414C>T
ENST00000699764.1:c.1324C>T	ENSP00000514572.1:p.Pro442Ser
ENST00000699765.1:c.*420C>T	ENSP00000514573.1:n.*420C>T
ENST00000699766.1:c.1324C>T	ENSP00000514574.1:p.Pro442Ser
ENST00000699767.1:c.1324C>T	ENSP00000514575.1:p.Pro442Ser
ENST00000699768.1:c.1324C>T	ENSP00000514576.1:p.Pro442Ser
ENST00000699811.1:c.919C>T	ENSP00000514614.1:p.Pro307Ser
ENST00000699813.1:n.1437C>T
ENST00000699814.1:c.947C>T
ENST00000699815.1:c.*855C>T	ENSP00000514616.1:n.*855C>T
ENST00000699816.1:c.*214C>T	ENSP00000514617.1:n.*214C>T
ENST00000699817.1:c.*918C>T	ENSP00000514618.1:n.*918C>T
ENST00000699818.1:c.919C>T	ENSP00000514619.1:p.Pro307Ser
ENST00000699819.1:c.*481C>T	ENSP00000514620.1:n.*481C>T
ENST00000699820.1:c.1144+2359C>T	ENSP00000514621.1:n.1144+2359C>T
ENST00000699821.1:c.919C>T	ENSP00000514622.1:p.Pro307Ser
ENST00000699822.1:c.*776C>T	ENSP00000514623.1:n.*776C>T
ENST00000699823.1:c.919C>T	ENSP00000514624.1:p.Pro307Ser
ENST00000699824.1:c.*827C>T	ENSP00000514625.1:n.*827C>T
ENST00000699825.1:c.763C>T	ENSP00000514626.1:p.Pro255Ser
ENST00000699826.1:c.*723C>T	ENSP00000514627.1:n.*723C>T
ENST00000699827.1:c.1156C>T	ENSP00000514628.1:p.Pro386Ser
ENST00000699828.1:c.*414C>T	ENSP00000514629.1:n.*414C>T
ENST00000699833.1:n.3096C>T
ENST00000699837.1:c.919C>T	ENSP00000514635.1:p.Pro307Ser
ENST00000699838.1:c.*1224C>T	ENSP00000514636.1:n.*1224C>T
ENST00000699839.1:c.1510C>T	ENSP00000514637.1:p.Pro504Ser
ENST00000699916.1:c.*581C>T	ENSP00000514684.1:n.*581C>T
ENST00000699917.1:c.*773C>T	ENSP00000514685.1:n.*773C>T
ENST00000699918.1:c.*825C>T	ENSP00000514686.1:n.*825C>T
ENST00000699919.1:c.*911C>T	ENSP00000514687.1:n.*911C>T
ENST00000699920.1:c.*960C>T	ENSP00000514688.1:n.*960C>T
ENST00000699928.1:c.989-4450C>T	ENSP00000514693.1:n.989-4450C>T
ENST00000699929.1:c.*625C>T	ENSP00000514694.1:n.*625C>T
ENST00000699930.1:c.1216C>T	ENSP00000514695.1:p.Pro406Ser
ENST00000699931.1:n.2752C>T
ENST00000699951.1:c.*420C>T	ENSP00000514706.1:n.*420C>T
ENST00000699952.1:c.803+9885C>T	ENSP00000514707.1:n.803+9885C>T
ENST00000699953.1:c.*431C>T	ENSP00000514708.1:n.*431C>T
ENST00000699954.1:c.*625C>T	ENSP00000514709.1:n.*625C>T
ENST00000265849.12:c.1324C>T MANE Select	ENSP00000265849.7:p.Pro442Ser
ENST00000642292.1:c.919C>T	ENSP00000495524.1:p.Pro307Ser
ENST00000642456.1:c.919C>T	ENSP00000493814.1:p.Pro307Ser
ENST00000643595.1:c.*723C>T	ENSP00000494497.1:n.*723C>T
ENST00000644110.1:c.1006C>T	ENSP00000496392.1:p.Pro336Ser
ENST00000265849.11:c.1324C>T	ENSP00000265849.7:p.Pro442Ser
ENST00000382321.5:c.804-4450C>T	ENSP00000371758.4:n.804-4450C>T
ENST00000406569.7:n.1324C>T
ENST00000441476.6:c.1006C>T	ENSP00000392843.2:p.Pro336Ser
ENST00000469652.1:n.63-4536C>T
NM_000535.5:c.1324C>T , LRG_161t1:c.1324C>T	NP_000526.1:p.Pro442Ser
NR_003085.2:n.1406C>T
XM_006715742.2:c.1318C>T	XP_006715805.1:p.Pro440Ser
XM_006715744.2:c.391C>T	XP_006715807.1:p.Pro131Ser
XM_011515427.1:c.1369C>T	XP_011513729.1:p.Pro457Ser
XM_011515428.1:c.1213C>T	XP_011513730.1:p.Pro405Ser
XM_011515429.1:c.1006C>T	XP_011513731.1:p.Pro336Ser
XM_011515430.1:c.1006C>T	XP_011513732.1:p.Pro336Ser
NM_000535.6:c.1324C>T	NP_000526.2:p.Pro442Ser
NM_001322003.1:c.919C>T	NP_001308932.1:p.Pro307Ser
NM_001322004.1:c.919C>T	NP_001308933.1:p.Pro307Ser
NM_001322005.1:c.919C>T	NP_001308934.1:p.Pro307Ser
NM_001322006.1:c.1168C>T	NP_001308935.1:p.Pro390Ser
NM_001322007.1:c.1006C>T	NP_001308936.1:p.Pro336Ser
NM_001322008.1:c.1006C>T	NP_001308937.1:p.Pro336Ser
NM_001322009.1:c.919C>T	NP_001308938.1:p.Pro307Ser
NM_001322010.1:c.763C>T	NP_001308939.1:p.Pro255Ser
NM_001322011.1:c.391C>T	NP_001308940.1:p.Pro131Ser
NM_001322012.1:c.391C>T	NP_001308941.1:p.Pro131Ser
NM_001322013.1:c.751C>T	NP_001308942.1:p.Pro251Ser
NM_001322014.1:c.1324C>T	NP_001308943.1:p.Pro442Ser
NM_001322015.1:c.1015C>T	NP_001308944.1:p.Pro339Ser
NR_136154.1:n.1411C>T
XM_006715744.4:c.391C>T	XP_006715807.1:p.Pro131Ser
XM_017012342.2:c.391C>T	XP_016867831.1:p.Pro131Ser
XM_024446800.1:c.763C>T	XP_024302568.1:p.Pro255Ser
NM_000535.7:c.1324C>T MANE Select	NP_000526.2:p.Pro442Ser
NM_001322003.2:c.919C>T	NP_001308932.1:p.Pro307Ser
NM_001322004.2:c.919C>T	NP_001308933.1:p.Pro307Ser
NM_001322005.2:c.919C>T	NP_001308934.1:p.Pro307Ser
NM_001322006.2:c.1168C>T	NP_001308935.1:p.Pro390Ser
NM_001322008.2:c.1006C>T	NP_001308937.1:p.Pro336Ser
NM_001322009.2:c.919C>T	NP_001308938.1:p.Pro307Ser
NM_001322010.2:c.763C>T	NP_001308939.1:p.Pro255Ser
NM_001322011.2:c.391C>T	NP_001308940.1:p.Pro131Ser
NM_001322012.2:c.391C>T	NP_001308941.1:p.Pro131Ser
NM_001322013.2:c.751C>T	NP_001308942.1:p.Pro251Ser
NM_001322014.2:c.1324C>T	NP_001308943.1:p.Pro442Ser
NM_001322015.2:c.1015C>T	NP_001308944.1:p.Pro339Ser
NM_001322007.2:c.1006C>T	NP_001308936.1:p.Pro336Ser