Canonical Allele Identifier: CA331722

Gene: PMS2

Linked Data

• ClinVar Variation Id: 91278
• ClinVar RCV Id: RCV001540228
• dbSNP Id: rs267608145
• gnomAD v2: 7-6012937-G-GT
• gnomAD v3: 7-5973306-G-GT
• gnomAD v4: 7-5973306-G-GT
• MyVariant Identifiers: chr7:g.6012938dupT (hg19) ; chr7:g.6012937_6012938insT (hg19) ; chr7:g.5973307dupT (hg38) ; chr7:g.5973306_5973307insT (hg38)
• PubMed: PMID:16619239

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973308dup , CM000669.2:g.5973308dup	GRCh38
NC_000007.13:g.6012939dup , CM000669.1:g.6012939dup	GRCh37
NC_000007.12:g.5979465dup	NCBI36
NG_008466.1:g.40800dup , LRG_161:g.40800dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*2077dup	ENSP00000514615.2:n.*2077dup
ENST00000699840.2:c.*92dup	ENSP00000514638.2:n.*92dup
ENST00000699930.2:c.*92dup	ENSP00000514695.2:n.*92dup
ENST00000406569.8:c.2041dup	ENSP00000514464.1:n.2041dup
ENST00000699752.1:c.*92dup	ENSP00000514561.1:n.*92dup
ENST00000699753.1:c.*2102dup	ENSP00000514562.1:n.*2102dup
ENST00000699754.1:c.*92dup	ENSP00000514563.1:n.*92dup
ENST00000699755.1:c.*2080dup	ENSP00000514564.1:n.*2080dup
ENST00000699756.1:c.*2268dup	ENSP00000514565.1:n.*2268dup
ENST00000699757.1:c.*1938dup	ENSP00000514566.1:n.*1938dup
ENST00000699758.1:c.*1938dup	ENSP00000514567.1:n.*1938dup
ENST00000699759.1:n.3535dup
ENST00000699760.1:c.*92dup	ENSP00000514568.1:n.*92dup
ENST00000699761.1:c.*92dup	ENSP00000514569.1:n.*92dup
ENST00000699762.1:c.*92dup	ENSP00000514570.1:n.*92dup
ENST00000699763.1:c.*1771dup	ENSP00000514571.1:n.*1771dup
ENST00000699764.1:c.*999dup	ENSP00000514572.1:n.*999dup
ENST00000699765.1:c.*1676dup	ENSP00000514573.1:n.*1676dup
ENST00000699766.1:c.*92dup	ENSP00000514574.1:n.*92dup
ENST00000699767.1:c.*322dup	ENSP00000514575.1:n.*322dup
ENST00000699768.1:c.*92dup	ENSP00000514576.1:n.*92dup
ENST00000699811.1:c.*92dup	ENSP00000514614.1:n.*92dup
ENST00000699813.1:n.2794dup
ENST00000699814.1:c.2304dup
ENST00000699815.1:c.*2212dup	ENSP00000514616.1:n.*2212dup
ENST00000699816.1:c.*1571dup	ENSP00000514617.1:n.*1571dup
ENST00000699817.1:c.*2275dup	ENSP00000514618.1:n.*2275dup
ENST00000699818.1:c.*92dup	ENSP00000514619.1:n.*92dup
ENST00000699819.1:c.*1838dup	ENSP00000514620.1:n.*1838dup
ENST00000699820.1:c.*619dup	ENSP00000514621.1:n.*619dup
ENST00000699821.1:c.*92dup	ENSP00000514622.1:n.*92dup
ENST00000699822.1:c.*2133dup	ENSP00000514623.1:n.*2133dup
ENST00000699823.1:c.*92dup	ENSP00000514624.1:n.*92dup
ENST00000699824.1:c.*2184dup	ENSP00000514625.1:n.*2184dup
ENST00000699825.1:c.*92dup	ENSP00000514626.1:n.*92dup
ENST00000699826.1:c.*2080dup	ENSP00000514627.1:n.*2080dup
ENST00000699827.1:c.*92dup	ENSP00000514628.1:n.*92dup
ENST00000699828.1:c.*1771dup	ENSP00000514629.1:n.*1771dup
ENST00000699833.1:n.4453dup
ENST00000699837.1:c.*92dup	ENSP00000514635.1:n.*92dup
ENST00000699838.1:c.*2581dup	ENSP00000514636.1:n.*2581dup
ENST00000699839.1:c.*92dup	ENSP00000514637.1:n.*92dup
ENST00000699916.1:c.*1938dup	ENSP00000514684.1:n.*1938dup
ENST00000699917.1:c.*2130dup	ENSP00000514685.1:n.*2130dup
ENST00000699918.1:c.*2182dup	ENSP00000514686.1:n.*2182dup
ENST00000699919.1:c.*2268dup	ENSP00000514687.1:n.*2268dup
ENST00000699920.1:c.*2317dup	ENSP00000514688.1:n.*2317dup
ENST00000699928.1:c.*619dup	ENSP00000514693.1:n.*619dup
ENST00000699951.1:c.*1734dup	ENSP00000514706.1:n.*1734dup
ENST00000699952.1:c.*235dup	ENSP00000514707.1:n.*235dup
ENST00000265849.12:c.*92dup MANE Select	ENSP00000265849.7:n.*92dup
ENST00000642292.1:c.*92dup	ENSP00000495524.1:n.*92dup
ENST00000642456.1:c.*92dup	ENSP00000493814.1:n.*92dup
ENST00000265849.11:c.*92dup	ENSP00000265849.7:n.*92dup
ENST00000441476.6:c.*92dup	ENSP00000392843.2:n.*92dup
NM_000535.5:c.*92dup , LRG_161t1:c.*92dup	NP_000526.1:n.*92dup
NR_003085.2:n.2763dup
XM_006715742.2:c.*92dup	XP_006715805.1:n.*92dup
XM_006715744.2:c.*92dup	XP_006715807.1:n.*92dup
XM_011515427.1:c.*92dup	XP_011513729.1:n.*92dup
XM_011515428.1:c.*92dup	XP_011513730.1:n.*92dup
XM_011515429.1:c.*92dup	XP_011513731.1:n.*92dup
XM_011515430.1:c.*92dup	XP_011513732.1:n.*92dup
NM_000535.6:c.*92dup	NP_000526.2:n.*92dup
NM_001322003.1:c.*92dup	NP_001308932.1:n.*92dup
NM_001322004.1:c.*92dup	NP_001308933.1:n.*92dup
NM_001322005.1:c.*92dup	NP_001308934.1:n.*92dup
NM_001322006.1:c.*92dup	NP_001308935.1:n.*92dup
NM_001322007.1:c.*92dup	NP_001308936.1:n.*92dup
NM_001322008.1:c.*92dup	NP_001308937.1:n.*92dup
NM_001322009.1:c.*92dup	NP_001308938.1:n.*92dup
NM_001322010.1:c.*92dup	NP_001308939.1:n.*92dup
NM_001322011.1:c.*92dup	NP_001308940.1:n.*92dup
NM_001322012.1:c.*92dup	NP_001308941.1:n.*92dup
NM_001322013.1:c.*92dup	NP_001308942.1:n.*92dup
NM_001322014.1:c.*92dup	NP_001308943.1:n.*92dup
NM_001322015.1:c.*92dup	NP_001308944.1:n.*92dup
NR_136154.1:n.2725dup
XM_006715744.4:c.*92dup	XP_006715807.1:n.*92dup
XM_017012342.2:c.*92dup	XP_016867831.1:n.*92dup
XM_024446800.1:c.*92dup	XP_024302568.1:n.*92dup
NM_000535.7:c.*92dup MANE Select	NP_000526.2:n.*92dup
NM_001322003.2:c.*92dup	NP_001308932.1:n.*92dup
NM_001322004.2:c.*92dup	NP_001308933.1:n.*92dup
NM_001322005.2:c.*92dup	NP_001308934.1:n.*92dup
NM_001322006.2:c.*92dup	NP_001308935.1:n.*92dup
NM_001322008.2:c.*92dup	NP_001308937.1:n.*92dup
NM_001322009.2:c.*92dup	NP_001308938.1:n.*92dup
NM_001322010.2:c.*92dup	NP_001308939.1:n.*92dup
NM_001322011.2:c.*92dup	NP_001308940.1:n.*92dup
NM_001322012.2:c.*92dup	NP_001308941.1:n.*92dup
NM_001322013.2:c.*92dup	NP_001308942.1:n.*92dup
NM_001322014.2:c.*92dup	NP_001308943.1:n.*92dup
NM_001322015.2:c.*92dup	NP_001308944.1:n.*92dup
NM_001322007.2:c.*92dup	NP_001308936.1:n.*92dup