Canonical Allele Identifier: CA366742056

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2674236
• ClinVar RCV Id: RCV003452432
• dbSNP Id: rs786203427
• MyVariant Identifiers: chr7:g.6026979C>A (hg19) ; chr7:g.5987348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987348C>A , CM000669.2:g.5987348C>A	GRCh38
NC_000007.13:g.6026979C>A , CM000669.1:g.6026979C>A	GRCh37
NC_000007.12:g.5993505C>A	NCBI36
NG_008466.1:g.26759G>T , LRG_161:g.26759G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*813G>T	ENSP00000514615.2:n.*813G>T
ENST00000699840.2:c.1414G>T	ENSP00000514638.2:p.Glu472Ter
ENST00000699930.2:c.1309G>T	ENSP00000514695.2:p.Glu437Ter
ENST00000406569.8:c.1417G>T	ENSP00000514464.1:p.Glu473Ter
ENST00000644110.2:c.*1011G>T	ENSP00000496392.2:n.*1011G>T
ENST00000699752.1:c.1261G>T	ENSP00000514561.1:p.Glu421Ter
ENST00000699753.1:c.*838G>T	ENSP00000514562.1:n.*838G>T
ENST00000699754.1:c.1219G>T	ENSP00000514563.1:p.Glu407Ter
ENST00000699755.1:c.*816G>T	ENSP00000514564.1:n.*816G>T
ENST00000699756.1:c.*1004G>T	ENSP00000514565.1:n.*1004G>T
ENST00000699757.1:c.*674G>T	ENSP00000514566.1:n.*674G>T
ENST00000699758.1:c.*674G>T	ENSP00000514567.1:n.*674G>T
ENST00000699759.1:n.2271G>T
ENST00000699760.1:c.1099G>T	ENSP00000514568.1:p.Glu367Ter
ENST00000699761.1:c.1012G>T	ENSP00000514569.1:p.Glu338Ter
ENST00000699762.1:c.844G>T	ENSP00000514570.1:p.Glu282Ter
ENST00000699763.1:c.*507G>T	ENSP00000514571.1:n.*507G>T
ENST00000699764.1:c.1417G>T	ENSP00000514572.1:p.Glu473Ter
ENST00000699765.1:c.*513G>T	ENSP00000514573.1:n.*513G>T
ENST00000699766.1:c.1417G>T	ENSP00000514574.1:p.Glu473Ter
ENST00000699767.1:c.1417G>T	ENSP00000514575.1:p.Glu473Ter
ENST00000699768.1:c.1417G>T	ENSP00000514576.1:p.Glu473Ter
ENST00000699811.1:c.1012G>T	ENSP00000514614.1:p.Glu338Ter
ENST00000699813.1:n.1530G>T
ENST00000699814.1:c.1040G>T
ENST00000699815.1:c.*948G>T	ENSP00000514616.1:n.*948G>T
ENST00000699816.1:c.*307G>T	ENSP00000514617.1:n.*307G>T
ENST00000699817.1:c.*1011G>T	ENSP00000514618.1:n.*1011G>T
ENST00000699818.1:c.1012G>T	ENSP00000514619.1:p.Glu338Ter
ENST00000699819.1:c.*574G>T	ENSP00000514620.1:n.*574G>T
ENST00000699820.1:c.1144+2452G>T	ENSP00000514621.1:n.1144+2452G>T
ENST00000699821.1:c.1012G>T	ENSP00000514622.1:p.Glu338Ter
ENST00000699822.1:c.*869G>T	ENSP00000514623.1:n.*869G>T
ENST00000699823.1:c.1012G>T	ENSP00000514624.1:p.Glu338Ter
ENST00000699824.1:c.*920G>T	ENSP00000514625.1:n.*920G>T
ENST00000699825.1:c.856G>T	ENSP00000514626.1:p.Glu286Ter
ENST00000699826.1:c.*816G>T	ENSP00000514627.1:n.*816G>T
ENST00000699827.1:c.1249G>T	ENSP00000514628.1:p.Glu417Ter
ENST00000699828.1:c.*507G>T	ENSP00000514629.1:n.*507G>T
ENST00000699833.1:n.3189G>T
ENST00000699837.1:c.1012G>T	ENSP00000514635.1:p.Glu338Ter
ENST00000699838.1:c.*1317G>T	ENSP00000514636.1:n.*1317G>T
ENST00000699839.1:c.1603G>T	ENSP00000514637.1:p.Glu535Ter
ENST00000699916.1:c.*674G>T	ENSP00000514684.1:n.*674G>T
ENST00000699917.1:c.*866G>T	ENSP00000514685.1:n.*866G>T
ENST00000699918.1:c.*918G>T	ENSP00000514686.1:n.*918G>T
ENST00000699919.1:c.*1004G>T	ENSP00000514687.1:n.*1004G>T
ENST00000699920.1:c.*1053G>T	ENSP00000514688.1:n.*1053G>T
ENST00000699928.1:c.989-4357G>T	ENSP00000514693.1:n.989-4357G>T
ENST00000699929.1:c.*718G>T	ENSP00000514694.1:n.*718G>T
ENST00000699930.1:c.1309G>T	ENSP00000514695.1:p.Glu437Ter
ENST00000699931.1:n.2845G>T
ENST00000699951.1:c.*513G>T	ENSP00000514706.1:n.*513G>T
ENST00000699952.1:c.803+9978G>T	ENSP00000514707.1:n.803+9978G>T
ENST00000699953.1:c.*524G>T	ENSP00000514708.1:n.*524G>T
ENST00000699954.1:c.*718G>T	ENSP00000514709.1:n.*718G>T
ENST00000265849.12:c.1417G>T MANE Select	ENSP00000265849.7:p.Glu473Ter
ENST00000642292.1:c.1012G>T	ENSP00000495524.1:p.Glu338Ter
ENST00000642456.1:c.1012G>T	ENSP00000493814.1:p.Glu338Ter
ENST00000643595.1:c.*816G>T	ENSP00000494497.1:n.*816G>T
ENST00000644110.1:c.1099G>T	ENSP00000496392.1:p.Glu367Ter
ENST00000265849.11:c.1417G>T	ENSP00000265849.7:p.Glu473Ter
ENST00000382321.5:c.804-4357G>T	ENSP00000371758.4:n.804-4357G>T
ENST00000406569.7:n.1417G>T
ENST00000441476.6:c.1099G>T	ENSP00000392843.2:p.Glu367Ter
ENST00000469652.1:n.63-4443G>T
NM_000535.5:c.1417G>T , LRG_161t1:c.1417G>T	NP_000526.1:p.Glu473Ter
NR_003085.2:n.1499G>T
XM_006715742.2:c.1411G>T	XP_006715805.1:p.Glu471Ter
XM_006715744.2:c.484G>T	XP_006715807.1:p.Glu162Ter
XM_011515427.1:c.1462G>T	XP_011513729.1:p.Glu488Ter
XM_011515428.1:c.1306G>T	XP_011513730.1:p.Glu436Ter
XM_011515429.1:c.1099G>T	XP_011513731.1:p.Glu367Ter
XM_011515430.1:c.1099G>T	XP_011513732.1:p.Glu367Ter
NM_000535.6:c.1417G>T	NP_000526.2:p.Glu473Ter
NM_001322003.1:c.1012G>T	NP_001308932.1:p.Glu338Ter
NM_001322004.1:c.1012G>T	NP_001308933.1:p.Glu338Ter
NM_001322005.1:c.1012G>T	NP_001308934.1:p.Glu338Ter
NM_001322006.1:c.1261G>T	NP_001308935.1:p.Glu421Ter
NM_001322007.1:c.1099G>T	NP_001308936.1:p.Glu367Ter
NM_001322008.1:c.1099G>T	NP_001308937.1:p.Glu367Ter
NM_001322009.1:c.1012G>T	NP_001308938.1:p.Glu338Ter
NM_001322010.1:c.856G>T	NP_001308939.1:p.Glu286Ter
NM_001322011.1:c.484G>T	NP_001308940.1:p.Glu162Ter
NM_001322012.1:c.484G>T	NP_001308941.1:p.Glu162Ter
NM_001322013.1:c.844G>T	NP_001308942.1:p.Glu282Ter
NM_001322014.1:c.1417G>T	NP_001308943.1:p.Glu473Ter
NM_001322015.1:c.1108G>T	NP_001308944.1:p.Glu370Ter
NR_136154.1:n.1504G>T
XM_006715744.4:c.484G>T	XP_006715807.1:p.Glu162Ter
XM_017012342.2:c.484G>T	XP_016867831.1:p.Glu162Ter
XM_024446800.1:c.856G>T	XP_024302568.1:p.Glu286Ter
NM_000535.7:c.1417G>T MANE Select	NP_000526.2:p.Glu473Ter
NM_001322003.2:c.1012G>T	NP_001308932.1:p.Glu338Ter
NM_001322004.2:c.1012G>T	NP_001308933.1:p.Glu338Ter
NM_001322005.2:c.1012G>T	NP_001308934.1:p.Glu338Ter
NM_001322006.2:c.1261G>T	NP_001308935.1:p.Glu421Ter
NM_001322008.2:c.1099G>T	NP_001308937.1:p.Glu367Ter
NM_001322009.2:c.1012G>T	NP_001308938.1:p.Glu338Ter
NM_001322010.2:c.856G>T	NP_001308939.1:p.Glu286Ter
NM_001322011.2:c.484G>T	NP_001308940.1:p.Glu162Ter
NM_001322012.2:c.484G>T	NP_001308941.1:p.Glu162Ter
NM_001322013.2:c.844G>T	NP_001308942.1:p.Glu282Ter
NM_001322014.2:c.1417G>T	NP_001308943.1:p.Glu473Ter
NM_001322015.2:c.1108G>T	NP_001308944.1:p.Glu370Ter
NM_001322007.2:c.1099G>T	NP_001308936.1:p.Glu367Ter