Canonical Allele Identifier: CA153230577

Gene: PMS2

Linked Data

• ClinVar Variation Id: 480319
• ClinVar RCV Id: RCV000569849 ; RCV000588492 ; RCV001416289 ; RCV001544866 ; RCV004000892
• dbSNP Id: rs989130272
• gnomAD v3: 7-5989831-A-G
• gnomAD v4: 7-5989831-A-G
• MyVariant Identifiers: chr7:g.6029462A>G (hg19) ; chr7:g.5989831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989831A>G , CM000669.2:g.5989831A>G	GRCh38
NC_000007.13:g.6029462A>G , CM000669.1:g.6029462A>G	GRCh37
NC_000007.12:g.5995988A>G	NCBI36
NG_008466.1:g.24276T>C , LRG_161:g.24276T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*509T>C	ENSP00000514615.2:n.*509T>C
ENST00000699840.2:c.1110T>C	ENSP00000514638.2:p.Asn370=
ENST00000699930.2:c.1005T>C	ENSP00000514695.2:p.Asn335=
ENST00000406569.8:c.1113T>C	ENSP00000514464.1:p.Asn371=
ENST00000644110.2:c.*707T>C	ENSP00000496392.2:n.*707T>C
ENST00000699752.1:c.988+2142T>C	ENSP00000514561.1:n.988+2142T>C
ENST00000699753.1:c.*534T>C	ENSP00000514562.1:n.*534T>C
ENST00000699754.1:c.915T>C	ENSP00000514563.1:p.Asn305=
ENST00000699755.1:c.*512T>C	ENSP00000514564.1:n.*512T>C
ENST00000699756.1:c.*700T>C	ENSP00000514565.1:n.*700T>C
ENST00000699757.1:c.*370T>C	ENSP00000514566.1:n.*370T>C
ENST00000699758.1:c.*370T>C	ENSP00000514567.1:n.*370T>C
ENST00000699759.1:n.1967T>C
ENST00000699760.1:c.795T>C	ENSP00000514568.1:p.Asn265=
ENST00000699761.1:c.708T>C	ENSP00000514569.1:p.Asn236=
ENST00000699762.1:c.540T>C	ENSP00000514570.1:p.Asn180=
ENST00000699763.1:c.*203T>C	ENSP00000514571.1:n.*203T>C
ENST00000699764.1:c.1113T>C	ENSP00000514572.1:p.Asn371=
ENST00000699765.1:c.*209T>C	ENSP00000514573.1:n.*209T>C
ENST00000699766.1:c.1113T>C	ENSP00000514574.1:p.Asn371=
ENST00000699767.1:c.1113T>C	ENSP00000514575.1:p.Asn371=
ENST00000699768.1:c.1113T>C	ENSP00000514576.1:p.Asn371=
ENST00000699811.1:c.708T>C	ENSP00000514614.1:p.Asn236=
ENST00000699813.1:n.1226T>C
ENST00000699814.1:c.736T>C
ENST00000699815.1:c.*605T>C	ENSP00000514616.1:n.*605T>C
ENST00000699816.1:c.708T>C	ENSP00000514617.1:p.Asn236=
ENST00000699817.1:c.*707T>C	ENSP00000514618.1:n.*707T>C
ENST00000699818.1:c.708T>C	ENSP00000514619.1:p.Asn236=
ENST00000699819.1:c.*270T>C	ENSP00000514620.1:n.*270T>C
ENST00000699820.1:c.1113T>C	ENSP00000514621.1:p.Asn371=
ENST00000699821.1:c.708T>C	ENSP00000514622.1:p.Asn236=
ENST00000699822.1:c.*565T>C	ENSP00000514623.1:n.*565T>C
ENST00000699823.1:c.708T>C	ENSP00000514624.1:p.Asn236=
ENST00000699824.1:c.*616T>C	ENSP00000514625.1:n.*616T>C
ENST00000699825.1:c.583+2142T>C	ENSP00000514626.1:n.583+2142T>C
ENST00000699826.1:c.*512T>C	ENSP00000514627.1:n.*512T>C
ENST00000699827.1:c.945T>C	ENSP00000514628.1:p.Asn315=
ENST00000699828.1:c.*203T>C	ENSP00000514629.1:n.*203T>C
ENST00000699829.1:c.*614T>C	ENSP00000514630.1:n.*614T>C
ENST00000699830.1:c.*512T>C	ENSP00000514631.1:n.*512T>C
ENST00000699833.1:n.2885T>C
ENST00000699837.1:c.708T>C	ENSP00000514635.1:p.Asn236=
ENST00000699838.1:c.*1013T>C	ENSP00000514636.1:n.*1013T>C
ENST00000699839.1:c.1299T>C	ENSP00000514637.1:p.Asn433=
ENST00000699840.1:c.1110T>C	ENSP00000514638.1:p.Asn370=
ENST00000699916.1:c.*370T>C	ENSP00000514684.1:n.*370T>C
ENST00000699917.1:c.*562T>C	ENSP00000514685.1:n.*562T>C
ENST00000699918.1:c.*614T>C	ENSP00000514686.1:n.*614T>C
ENST00000699919.1:c.*700T>C	ENSP00000514687.1:n.*700T>C
ENST00000699920.1:c.*749T>C	ENSP00000514688.1:n.*749T>C
ENST00000699928.1:c.988+2142T>C	ENSP00000514693.1:n.988+2142T>C
ENST00000699929.1:c.*414T>C	ENSP00000514694.1:n.*414T>C
ENST00000699930.1:c.1005T>C	ENSP00000514695.1:p.Asn335=
ENST00000699931.1:n.2541T>C
ENST00000699932.1:c.*331T>C	ENSP00000514696.1:n.*331T>C
ENST00000699933.1:n.1093T>C
ENST00000699951.1:c.*209T>C	ENSP00000514706.1:n.*209T>C
ENST00000699952.1:c.803+7495T>C	ENSP00000514707.1:n.803+7495T>C
ENST00000699953.1:c.*220T>C	ENSP00000514708.1:n.*220T>C
ENST00000699954.1:c.*414T>C	ENSP00000514709.1:n.*414T>C
ENST00000265849.12:c.1113T>C MANE Select	ENSP00000265849.7:p.Asn371=
ENST00000642292.1:c.708T>C	ENSP00000495524.1:p.Asn236=
ENST00000642456.1:c.708T>C	ENSP00000493814.1:p.Asn236=
ENST00000643595.1:c.*512T>C	ENSP00000494497.1:n.*512T>C
ENST00000644110.1:c.795T>C	ENSP00000496392.1:p.Asn265=
ENST00000265849.11:c.1113T>C	ENSP00000265849.7:p.Asn371=
ENST00000382321.5:c.804-6840T>C	ENSP00000371758.4:n.804-6840T>C
ENST00000406569.7:n.1113T>C
ENST00000441476.6:c.795T>C	ENSP00000392843.2:p.Asn265=
ENST00000469652.1:n.63-6926T>C
NM_000535.5:c.1113T>C , LRG_161t1:c.1113T>C	NP_000526.1:p.Asn371=
NR_003085.2:n.1195T>C
XM_006715742.2:c.1107T>C	XP_006715805.1:p.Asn369=
XM_006715744.2:c.180T>C	XP_006715807.1:p.Asn60=
XM_011515427.1:c.1158T>C	XP_011513729.1:p.Asn386=
XM_011515428.1:c.1033+2142T>C	XP_011513730.1:n.1033+2142T>C
XM_011515429.1:c.795T>C	XP_011513731.1:p.Asn265=
XM_011515430.1:c.795T>C	XP_011513732.1:p.Asn265=
NM_000535.6:c.1113T>C	NP_000526.2:p.Asn371=
NM_001322003.1:c.708T>C	NP_001308932.1:p.Asn236=
NM_001322004.1:c.708T>C	NP_001308933.1:p.Asn236=
NM_001322005.1:c.708T>C	NP_001308934.1:p.Asn236=
NM_001322006.1:c.988+2142T>C	NP_001308935.1:n.988+2142T>C
NM_001322007.1:c.795T>C	NP_001308936.1:p.Asn265=
NM_001322008.1:c.795T>C	NP_001308937.1:p.Asn265=
NM_001322009.1:c.708T>C	NP_001308938.1:p.Asn236=
NM_001322010.1:c.583+2142T>C	NP_001308939.1:n.583+2142T>C
NM_001322011.1:c.180T>C	NP_001308940.1:p.Asn60=
NM_001322012.1:c.180T>C	NP_001308941.1:p.Asn60=
NM_001322013.1:c.540T>C	NP_001308942.1:p.Asn180=
NM_001322014.1:c.1113T>C	NP_001308943.1:p.Asn371=
NM_001322015.1:c.804T>C	NP_001308944.1:p.Asn268=
NR_136154.1:n.1200T>C
XM_006715744.4:c.180T>C	XP_006715807.1:p.Asn60=
XM_017012342.2:c.180T>C	XP_016867831.1:p.Asn60=
XM_024446800.1:c.583+2142T>C	XP_024302568.1:n.583+2142T>C
NM_000535.7:c.1113T>C MANE Select	NP_000526.2:p.Asn371=
NM_001322003.2:c.708T>C	NP_001308932.1:p.Asn236=
NM_001322004.2:c.708T>C	NP_001308933.1:p.Asn236=
NM_001322005.2:c.708T>C	NP_001308934.1:p.Asn236=
NM_001322006.2:c.988+2142T>C	NP_001308935.1:n.988+2142T>C
NM_001322008.2:c.795T>C	NP_001308937.1:p.Asn265=
NM_001322009.2:c.708T>C	NP_001308938.1:p.Asn236=
NM_001322010.2:c.583+2142T>C	NP_001308939.1:n.583+2142T>C
NM_001322011.2:c.180T>C	NP_001308940.1:p.Asn60=
NM_001322012.2:c.180T>C	NP_001308941.1:p.Asn60=
NM_001322013.2:c.540T>C	NP_001308942.1:p.Asn180=
NM_001322014.2:c.1113T>C	NP_001308943.1:p.Asn371=
NM_001322015.2:c.804T>C	NP_001308944.1:p.Asn268=
NM_001322007.2:c.795T>C	NP_001308936.1:p.Asn265=