Canonical Allele Identifier: CA366739869

Gene: PMS2

Linked Data

• dbSNP Id: rs1554297236
• MyVariant Identifiers: chr7:g.6026612A>T (hg19) ; chr7:g.5986981A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986981A>T , CM000669.2:g.5986981A>T	GRCh38
NC_000007.13:g.6026612A>T , CM000669.1:g.6026612A>T	GRCh37
NC_000007.12:g.5993138A>T	NCBI36
NG_008466.1:g.27126T>A , LRG_161:g.27126T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1180T>A	ENSP00000514615.2:n.*1180T>A
ENST00000699840.2:c.1781T>A	ENSP00000514638.2:p.Val594Glu
ENST00000699930.2:c.1676T>A	ENSP00000514695.2:p.Val559Glu
ENST00000406569.8:c.1678+106T>A	ENSP00000514464.1:n.1678+106T>A
ENST00000644110.2:c.*1378T>A	ENSP00000496392.2:n.*1378T>A
ENST00000699752.1:c.1628T>A	ENSP00000514561.1:p.Val543Glu
ENST00000699753.1:c.*1205T>A	ENSP00000514562.1:n.*1205T>A
ENST00000699754.1:c.1586T>A	ENSP00000514563.1:p.Val529Glu
ENST00000699755.1:c.*1183T>A	ENSP00000514564.1:n.*1183T>A
ENST00000699756.1:c.*1371T>A	ENSP00000514565.1:n.*1371T>A
ENST00000699757.1:c.*1041T>A	ENSP00000514566.1:n.*1041T>A
ENST00000699758.1:c.*1041T>A	ENSP00000514567.1:n.*1041T>A
ENST00000699759.1:n.2638T>A
ENST00000699760.1:c.1466T>A	ENSP00000514568.1:p.Val489Glu
ENST00000699761.1:c.1379T>A	ENSP00000514569.1:p.Val460Glu
ENST00000699762.1:c.1211T>A	ENSP00000514570.1:p.Val404Glu
ENST00000699763.1:c.*874T>A	ENSP00000514571.1:n.*874T>A
ENST00000699764.1:c.*102T>A	ENSP00000514572.1:n.*102T>A
ENST00000699765.1:c.*880T>A	ENSP00000514573.1:n.*880T>A
ENST00000699766.1:c.1784T>A	ENSP00000514574.1:p.Val595Glu
ENST00000699767.1:c.1784T>A	ENSP00000514575.1:p.Val595Glu
ENST00000699768.1:c.1784T>A	ENSP00000514576.1:p.Val595Glu
ENST00000699811.1:c.1379T>A	ENSP00000514614.1:p.Val460Glu
ENST00000699813.1:n.1897T>A
ENST00000699814.1:c.1407T>A
ENST00000699815.1:c.*1315T>A	ENSP00000514616.1:n.*1315T>A
ENST00000699816.1:c.*674T>A	ENSP00000514617.1:n.*674T>A
ENST00000699817.1:c.*1378T>A	ENSP00000514618.1:n.*1378T>A
ENST00000699818.1:c.1379T>A	ENSP00000514619.1:p.Val460Glu
ENST00000699819.1:c.*941T>A	ENSP00000514620.1:n.*941T>A
ENST00000699820.1:c.1144+2819T>A	ENSP00000514621.1:n.1144+2819T>A
ENST00000699821.1:c.1379T>A	ENSP00000514622.1:p.Val460Glu
ENST00000699822.1:c.*1236T>A	ENSP00000514623.1:n.*1236T>A
ENST00000699823.1:c.1379T>A	ENSP00000514624.1:p.Val460Glu
ENST00000699824.1:c.*1287T>A	ENSP00000514625.1:n.*1287T>A
ENST00000699825.1:c.1223T>A	ENSP00000514626.1:p.Val408Glu
ENST00000699826.1:c.*1183T>A	ENSP00000514627.1:n.*1183T>A
ENST00000699827.1:c.1616T>A	ENSP00000514628.1:p.Val539Glu
ENST00000699828.1:c.*874T>A	ENSP00000514629.1:n.*874T>A
ENST00000699833.1:n.3556T>A
ENST00000699837.1:c.1379T>A	ENSP00000514635.1:p.Val460Glu
ENST00000699838.1:c.*1684T>A	ENSP00000514636.1:n.*1684T>A
ENST00000699839.1:c.1970T>A	ENSP00000514637.1:p.Val657Glu
ENST00000699916.1:c.*1041T>A	ENSP00000514684.1:n.*1041T>A
ENST00000699917.1:c.*1233T>A	ENSP00000514685.1:n.*1233T>A
ENST00000699918.1:c.*1285T>A	ENSP00000514686.1:n.*1285T>A
ENST00000699919.1:c.*1371T>A	ENSP00000514687.1:n.*1371T>A
ENST00000699920.1:c.*1420T>A	ENSP00000514688.1:n.*1420T>A
ENST00000699928.1:c.989-3990T>A	ENSP00000514693.1:n.989-3990T>A
ENST00000699929.1:c.*1085T>A	ENSP00000514694.1:n.*1085T>A
ENST00000699930.1:c.1676T>A	ENSP00000514695.1:p.Val559Glu
ENST00000699931.1:n.3212T>A
ENST00000699951.1:c.*880T>A	ENSP00000514706.1:n.*880T>A
ENST00000699952.1:c.803+10345T>A	ENSP00000514707.1:n.803+10345T>A
ENST00000699953.1:c.*891T>A	ENSP00000514708.1:n.*891T>A
ENST00000699954.1:c.*1085T>A	ENSP00000514709.1:n.*1085T>A
ENST00000265849.12:c.1784T>A MANE Select	ENSP00000265849.7:p.Val595Glu
ENST00000642292.1:c.1379T>A	ENSP00000495524.1:p.Val460Glu
ENST00000642456.1:c.1379T>A	ENSP00000493814.1:p.Val460Glu
ENST00000643595.1:c.*1183T>A	ENSP00000494497.1:n.*1183T>A
ENST00000644110.1:c.1466T>A	ENSP00000496392.1:p.Val489Glu
ENST00000265849.11:c.1784T>A	ENSP00000265849.7:p.Val595Glu
ENST00000382321.5:c.804-3990T>A	ENSP00000371758.4:n.804-3990T>A
ENST00000406569.7:n.1678+106T>A
ENST00000441476.6:c.1466T>A	ENSP00000392843.2:p.Val489Glu
ENST00000469652.1:n.63-4076T>A
NM_000535.5:c.1784T>A , LRG_161t1:c.1784T>A	NP_000526.1:p.Val595Glu
NR_003085.2:n.1866T>A
XM_006715742.2:c.1778T>A	XP_006715805.1:p.Val593Glu
XM_006715744.2:c.851T>A	XP_006715807.1:p.Val284Glu
XM_011515427.1:c.1829T>A	XP_011513729.1:p.Val610Glu
XM_011515428.1:c.1673T>A	XP_011513730.1:p.Val558Glu
XM_011515429.1:c.1466T>A	XP_011513731.1:p.Val489Glu
XM_011515430.1:c.1466T>A	XP_011513732.1:p.Val489Glu
NM_000535.6:c.1784T>A	NP_000526.2:p.Val595Glu
NM_001322003.1:c.1379T>A	NP_001308932.1:p.Val460Glu
NM_001322004.1:c.1379T>A	NP_001308933.1:p.Val460Glu
NM_001322005.1:c.1379T>A	NP_001308934.1:p.Val460Glu
NM_001322006.1:c.1628T>A	NP_001308935.1:p.Val543Glu
NM_001322007.1:c.1466T>A	NP_001308936.1:p.Val489Glu
NM_001322008.1:c.1466T>A	NP_001308937.1:p.Val489Glu
NM_001322009.1:c.1379T>A	NP_001308938.1:p.Val460Glu
NM_001322010.1:c.1223T>A	NP_001308939.1:p.Val408Glu
NM_001322011.1:c.851T>A	NP_001308940.1:p.Val284Glu
NM_001322012.1:c.851T>A	NP_001308941.1:p.Val284Glu
NM_001322013.1:c.1211T>A	NP_001308942.1:p.Val404Glu
NM_001322014.1:c.1784T>A	NP_001308943.1:p.Val595Glu
NM_001322015.1:c.1475T>A	NP_001308944.1:p.Val492Glu
NR_136154.1:n.1871T>A
XM_006715744.4:c.851T>A	XP_006715807.1:p.Val284Glu
XM_017012342.2:c.851T>A	XP_016867831.1:p.Val284Glu
XM_024446800.1:c.1223T>A	XP_024302568.1:p.Val408Glu
NM_000535.7:c.1784T>A MANE Select	NP_000526.2:p.Val595Glu
NM_001322003.2:c.1379T>A	NP_001308932.1:p.Val460Glu
NM_001322004.2:c.1379T>A	NP_001308933.1:p.Val460Glu
NM_001322005.2:c.1379T>A	NP_001308934.1:p.Val460Glu
NM_001322006.2:c.1628T>A	NP_001308935.1:p.Val543Glu
NM_001322008.2:c.1466T>A	NP_001308937.1:p.Val489Glu
NM_001322009.2:c.1379T>A	NP_001308938.1:p.Val460Glu
NM_001322010.2:c.1223T>A	NP_001308939.1:p.Val408Glu
NM_001322011.2:c.851T>A	NP_001308940.1:p.Val284Glu
NM_001322012.2:c.851T>A	NP_001308941.1:p.Val284Glu
NM_001322013.2:c.1211T>A	NP_001308942.1:p.Val404Glu
NM_001322014.2:c.1784T>A	NP_001308943.1:p.Val595Glu
NM_001322015.2:c.1475T>A	NP_001308944.1:p.Val492Glu
NM_001322007.2:c.1466T>A	NP_001308936.1:p.Val489Glu