Canonical Allele Identifier: CA366738020

Gene: PMS2

Linked Data

• ClinVar Variation Id: 484283
• ClinVar RCV Id: RCV000570769 ; RCV000797970 ; RCV000662598 ; RCV001591337
• dbSNP Id: rs1554295859
• gnomAD v4: 7-5982909-T-C
• MyVariant Identifiers: chr7:g.6022540T>C (hg19) ; chr7:g.5982909T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982909T>C , CM000669.2:g.5982909T>C	GRCh38
NC_000007.13:g.6022540T>C , CM000669.1:g.6022540T>C	GRCh37
NC_000007.12:g.5989066T>C	NCBI36
NG_008466.1:g.31198A>G , LRG_161:g.31198A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1485A>G	ENSP00000514615.2:n.*1485A>G
ENST00000699840.2:c.2086A>G	ENSP00000514638.2:p.Ile696Val
ENST00000699930.2:c.1981A>G	ENSP00000514695.2:p.Ile661Val
ENST00000406569.8:c.1678+4178A>G	ENSP00000514464.1:n.1678+4178A>G
ENST00000644110.2:c.*1683A>G	ENSP00000496392.2:n.*1683A>G
ENST00000699752.1:c.1933A>G	ENSP00000514561.1:p.Ile645Val
ENST00000699753.1:c.*1510A>G	ENSP00000514562.1:n.*1510A>G
ENST00000699754.1:c.1891A>G	ENSP00000514563.1:p.Ile631Val
ENST00000699755.1:c.*1488A>G	ENSP00000514564.1:n.*1488A>G
ENST00000699756.1:c.*1676A>G	ENSP00000514565.1:n.*1676A>G
ENST00000699757.1:c.*1346A>G	ENSP00000514566.1:n.*1346A>G
ENST00000699758.1:c.*1346A>G	ENSP00000514567.1:n.*1346A>G
ENST00000699759.1:n.2943A>G
ENST00000699760.1:c.1771A>G	ENSP00000514568.1:p.Ile591Val
ENST00000699761.1:c.1684A>G	ENSP00000514569.1:p.Ile562Val
ENST00000699762.1:c.1516A>G	ENSP00000514570.1:p.Ile506Val
ENST00000699763.1:c.*1179A>G	ENSP00000514571.1:n.*1179A>G
ENST00000699764.1:c.*407A>G	ENSP00000514572.1:n.*407A>G
ENST00000699765.1:c.*1185A>G	ENSP00000514573.1:n.*1185A>G
ENST00000699766.1:c.2089A>G	ENSP00000514574.1:p.Ile697Val
ENST00000699767.1:c.2089A>G	ENSP00000514575.1:p.Ile697Val
ENST00000699768.1:c.2089A>G	ENSP00000514576.1:p.Ile697Val
ENST00000699811.1:c.1684A>G	ENSP00000514614.1:p.Ile562Val
ENST00000699813.1:n.2202A>G
ENST00000699814.1:c.1712A>G
ENST00000699815.1:c.*1620A>G	ENSP00000514616.1:n.*1620A>G
ENST00000699816.1:c.*979A>G	ENSP00000514617.1:n.*979A>G
ENST00000699817.1:c.*1683A>G	ENSP00000514618.1:n.*1683A>G
ENST00000699818.1:c.1684A>G	ENSP00000514619.1:p.Ile562Val
ENST00000699819.1:c.*1246A>G	ENSP00000514620.1:n.*1246A>G
ENST00000699820.1:c.*27A>G	ENSP00000514621.1:n.*27A>G
ENST00000699821.1:c.1684A>G	ENSP00000514622.1:p.Ile562Val
ENST00000699822.1:c.*1541A>G	ENSP00000514623.1:n.*1541A>G
ENST00000699823.1:c.1684A>G	ENSP00000514624.1:p.Ile562Val
ENST00000699824.1:c.*1592A>G	ENSP00000514625.1:n.*1592A>G
ENST00000699825.1:c.1528A>G	ENSP00000514626.1:p.Ile510Val
ENST00000699826.1:c.*1488A>G	ENSP00000514627.1:n.*1488A>G
ENST00000699827.1:c.1921A>G	ENSP00000514628.1:p.Ile641Val
ENST00000699828.1:c.*1179A>G	ENSP00000514629.1:n.*1179A>G
ENST00000699833.1:n.3861A>G
ENST00000699837.1:c.1684A>G	ENSP00000514635.1:p.Ile562Val
ENST00000699838.1:c.*1989A>G	ENSP00000514636.1:n.*1989A>G
ENST00000699839.1:c.2275A>G	ENSP00000514637.1:p.Ile759Val
ENST00000699916.1:c.*1346A>G	ENSP00000514684.1:n.*1346A>G
ENST00000699917.1:c.*1538A>G	ENSP00000514685.1:n.*1538A>G
ENST00000699918.1:c.*1590A>G	ENSP00000514686.1:n.*1590A>G
ENST00000699919.1:c.*1676A>G	ENSP00000514687.1:n.*1676A>G
ENST00000699920.1:c.*1725A>G	ENSP00000514688.1:n.*1725A>G
ENST00000699928.1:c.*27A>G	ENSP00000514693.1:n.*27A>G
ENST00000699951.1:c.*1185A>G	ENSP00000514706.1:n.*1185A>G
ENST00000699952.1:c.804-9367A>G	ENSP00000514707.1:n.804-9367A>G
ENST00000265849.12:c.2089A>G MANE Select	ENSP00000265849.7:p.Ile697Val
ENST00000642292.1:c.1684A>G	ENSP00000495524.1:p.Ile562Val
ENST00000642456.1:c.1684A>G	ENSP00000493814.1:p.Ile562Val
ENST00000643595.1:c.*1488A>G	ENSP00000494497.1:n.*1488A>G
ENST00000644110.1:c.1771A>G	ENSP00000496392.1:p.Ile591Val
ENST00000265849.11:c.2089A>G	ENSP00000265849.7:p.Ile697Val
ENST00000382321.5:c.886A>G	ENSP00000371758.4:p.Ile296Val
ENST00000406569.7:n.1678+4178A>G
ENST00000441476.6:c.1771A>G	ENSP00000392843.2:p.Ile591Val
ENST00000469652.1:n.63-4A>G
NM_000535.5:c.2089A>G , LRG_161t1:c.2089A>G	NP_000526.1:p.Ile697Val
NR_003085.2:n.2171A>G
XM_006715742.2:c.2083A>G	XP_006715805.1:p.Ile695Val
XM_006715744.2:c.1156A>G	XP_006715807.1:p.Ile386Val
XM_011515427.1:c.2134A>G	XP_011513729.1:p.Ile712Val
XM_011515428.1:c.1978A>G	XP_011513730.1:p.Ile660Val
XM_011515429.1:c.1771A>G	XP_011513731.1:p.Ile591Val
XM_011515430.1:c.1771A>G	XP_011513732.1:p.Ile591Val
NM_000535.6:c.2089A>G	NP_000526.2:p.Ile697Val
NM_001322003.1:c.1684A>G	NP_001308932.1:p.Ile562Val
NM_001322004.1:c.1684A>G	NP_001308933.1:p.Ile562Val
NM_001322005.1:c.1684A>G	NP_001308934.1:p.Ile562Val
NM_001322006.1:c.1933A>G	NP_001308935.1:p.Ile645Val
NM_001322007.1:c.1771A>G	NP_001308936.1:p.Ile591Val
NM_001322008.1:c.1771A>G	NP_001308937.1:p.Ile591Val
NM_001322009.1:c.1684A>G	NP_001308938.1:p.Ile562Val
NM_001322010.1:c.1528A>G	NP_001308939.1:p.Ile510Val
NM_001322011.1:c.1156A>G	NP_001308940.1:p.Ile386Val
NM_001322012.1:c.1156A>G	NP_001308941.1:p.Ile386Val
NM_001322013.1:c.1516A>G	NP_001308942.1:p.Ile506Val
NM_001322014.1:c.2089A>G	NP_001308943.1:p.Ile697Val
NM_001322015.1:c.1780A>G	NP_001308944.1:p.Ile594Val
NR_136154.1:n.2176A>G
XM_006715744.4:c.1156A>G	XP_006715807.1:p.Ile386Val
XM_017012342.2:c.1156A>G	XP_016867831.1:p.Ile386Val
XM_024446800.1:c.1528A>G	XP_024302568.1:p.Ile510Val
NM_000535.7:c.2089A>G MANE Select	NP_000526.2:p.Ile697Val
NM_001322003.2:c.1684A>G	NP_001308932.1:p.Ile562Val
NM_001322004.2:c.1684A>G	NP_001308933.1:p.Ile562Val
NM_001322005.2:c.1684A>G	NP_001308934.1:p.Ile562Val
NM_001322006.2:c.1933A>G	NP_001308935.1:p.Ile645Val
NM_001322008.2:c.1771A>G	NP_001308937.1:p.Ile591Val
NM_001322009.2:c.1684A>G	NP_001308938.1:p.Ile562Val
NM_001322010.2:c.1528A>G	NP_001308939.1:p.Ile510Val
NM_001322011.2:c.1156A>G	NP_001308940.1:p.Ile386Val
NM_001322012.2:c.1156A>G	NP_001308941.1:p.Ile386Val
NM_001322013.2:c.1516A>G	NP_001308942.1:p.Ile506Val
NM_001322014.2:c.2089A>G	NP_001308943.1:p.Ile697Val
NM_001322015.2:c.1780A>G	NP_001308944.1:p.Ile594Val
NM_001322007.2:c.1771A>G	NP_001308936.1:p.Ile591Val