Canonical Allele Identifier: CA366742360

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1018712
• ClinVar RCV Id: RCV001318052
• dbSNP Id: rs1783139001
• MyVariant Identifiers: chr7:g.6027086G>A (hg19) ; chr7:g.5987455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987455G>A , CM000669.2:g.5987455G>A	GRCh38
NC_000007.13:g.6027086G>A , CM000669.1:g.6027086G>A	GRCh37
NC_000007.12:g.5993612G>A	NCBI36
NG_008466.1:g.26652C>T , LRG_161:g.26652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*706C>T	ENSP00000514615.2:n.*706C>T
ENST00000699840.2:c.1307C>T	ENSP00000514638.2:p.Pro436Leu
ENST00000699930.2:c.1202C>T	ENSP00000514695.2:p.Pro401Leu
ENST00000406569.8:c.1310C>T	ENSP00000514464.1:p.Pro437Leu
ENST00000644110.2:c.*904C>T	ENSP00000496392.2:n.*904C>T
ENST00000699752.1:c.1154C>T	ENSP00000514561.1:p.Pro385Leu
ENST00000699753.1:c.*731C>T	ENSP00000514562.1:n.*731C>T
ENST00000699754.1:c.1112C>T	ENSP00000514563.1:p.Pro371Leu
ENST00000699755.1:c.*709C>T	ENSP00000514564.1:n.*709C>T
ENST00000699756.1:c.*897C>T	ENSP00000514565.1:n.*897C>T
ENST00000699757.1:c.*567C>T	ENSP00000514566.1:n.*567C>T
ENST00000699758.1:c.*567C>T	ENSP00000514567.1:n.*567C>T
ENST00000699759.1:n.2164C>T
ENST00000699760.1:c.992C>T	ENSP00000514568.1:p.Pro331Leu
ENST00000699761.1:c.905C>T	ENSP00000514569.1:p.Pro302Leu
ENST00000699762.1:c.737C>T	ENSP00000514570.1:p.Pro246Leu
ENST00000699763.1:c.*400C>T	ENSP00000514571.1:n.*400C>T
ENST00000699764.1:c.1310C>T	ENSP00000514572.1:p.Pro437Leu
ENST00000699765.1:c.*406C>T	ENSP00000514573.1:n.*406C>T
ENST00000699766.1:c.1310C>T	ENSP00000514574.1:p.Pro437Leu
ENST00000699767.1:c.1310C>T	ENSP00000514575.1:p.Pro437Leu
ENST00000699768.1:c.1310C>T	ENSP00000514576.1:p.Pro437Leu
ENST00000699811.1:c.905C>T	ENSP00000514614.1:p.Pro302Leu
ENST00000699813.1:n.1423C>T
ENST00000699814.1:c.933C>T
ENST00000699815.1:c.*841C>T	ENSP00000514616.1:n.*841C>T
ENST00000699816.1:c.*200C>T	ENSP00000514617.1:n.*200C>T
ENST00000699817.1:c.*904C>T	ENSP00000514618.1:n.*904C>T
ENST00000699818.1:c.905C>T	ENSP00000514619.1:p.Pro302Leu
ENST00000699819.1:c.*467C>T	ENSP00000514620.1:n.*467C>T
ENST00000699820.1:c.1144+2345C>T	ENSP00000514621.1:n.1144+2345C>T
ENST00000699821.1:c.905C>T	ENSP00000514622.1:p.Pro302Leu
ENST00000699822.1:c.*762C>T	ENSP00000514623.1:n.*762C>T
ENST00000699823.1:c.905C>T	ENSP00000514624.1:p.Pro302Leu
ENST00000699824.1:c.*813C>T	ENSP00000514625.1:n.*813C>T
ENST00000699825.1:c.749C>T	ENSP00000514626.1:p.Pro250Leu
ENST00000699826.1:c.*709C>T	ENSP00000514627.1:n.*709C>T
ENST00000699827.1:c.1142C>T	ENSP00000514628.1:p.Pro381Leu
ENST00000699828.1:c.*400C>T	ENSP00000514629.1:n.*400C>T
ENST00000699833.1:n.3082C>T
ENST00000699837.1:c.905C>T	ENSP00000514635.1:p.Pro302Leu
ENST00000699838.1:c.*1210C>T	ENSP00000514636.1:n.*1210C>T
ENST00000699839.1:c.1496C>T	ENSP00000514637.1:p.Pro499Leu
ENST00000699916.1:c.*567C>T	ENSP00000514684.1:n.*567C>T
ENST00000699917.1:c.*759C>T	ENSP00000514685.1:n.*759C>T
ENST00000699918.1:c.*811C>T	ENSP00000514686.1:n.*811C>T
ENST00000699919.1:c.*897C>T	ENSP00000514687.1:n.*897C>T
ENST00000699920.1:c.*946C>T	ENSP00000514688.1:n.*946C>T
ENST00000699928.1:c.989-4464C>T	ENSP00000514693.1:n.989-4464C>T
ENST00000699929.1:c.*611C>T	ENSP00000514694.1:n.*611C>T
ENST00000699930.1:c.1202C>T	ENSP00000514695.1:p.Pro401Leu
ENST00000699931.1:n.2738C>T
ENST00000699951.1:c.*406C>T	ENSP00000514706.1:n.*406C>T
ENST00000699952.1:c.803+9871C>T	ENSP00000514707.1:n.803+9871C>T
ENST00000699953.1:c.*417C>T	ENSP00000514708.1:n.*417C>T
ENST00000699954.1:c.*611C>T	ENSP00000514709.1:n.*611C>T
ENST00000265849.12:c.1310C>T MANE Select	ENSP00000265849.7:p.Pro437Leu
ENST00000642292.1:c.905C>T	ENSP00000495524.1:p.Pro302Leu
ENST00000642456.1:c.905C>T	ENSP00000493814.1:p.Pro302Leu
ENST00000643595.1:c.*709C>T	ENSP00000494497.1:n.*709C>T
ENST00000644110.1:c.992C>T	ENSP00000496392.1:p.Pro331Leu
ENST00000265849.11:c.1310C>T	ENSP00000265849.7:p.Pro437Leu
ENST00000382321.5:c.804-4464C>T	ENSP00000371758.4:n.804-4464C>T
ENST00000406569.7:n.1310C>T
ENST00000441476.6:c.992C>T	ENSP00000392843.2:p.Pro331Leu
ENST00000469652.1:n.63-4550C>T
NM_000535.5:c.1310C>T , LRG_161t1:c.1310C>T	NP_000526.1:p.Pro437Leu
NR_003085.2:n.1392C>T
XM_006715742.2:c.1304C>T	XP_006715805.1:p.Pro435Leu
XM_006715744.2:c.377C>T	XP_006715807.1:p.Pro126Leu
XM_011515427.1:c.1355C>T	XP_011513729.1:p.Pro452Leu
XM_011515428.1:c.1199C>T	XP_011513730.1:p.Pro400Leu
XM_011515429.1:c.992C>T	XP_011513731.1:p.Pro331Leu
XM_011515430.1:c.992C>T	XP_011513732.1:p.Pro331Leu
NM_000535.6:c.1310C>T	NP_000526.2:p.Pro437Leu
NM_001322003.1:c.905C>T	NP_001308932.1:p.Pro302Leu
NM_001322004.1:c.905C>T	NP_001308933.1:p.Pro302Leu
NM_001322005.1:c.905C>T	NP_001308934.1:p.Pro302Leu
NM_001322006.1:c.1154C>T	NP_001308935.1:p.Pro385Leu
NM_001322007.1:c.992C>T	NP_001308936.1:p.Pro331Leu
NM_001322008.1:c.992C>T	NP_001308937.1:p.Pro331Leu
NM_001322009.1:c.905C>T	NP_001308938.1:p.Pro302Leu
NM_001322010.1:c.749C>T	NP_001308939.1:p.Pro250Leu
NM_001322011.1:c.377C>T	NP_001308940.1:p.Pro126Leu
NM_001322012.1:c.377C>T	NP_001308941.1:p.Pro126Leu
NM_001322013.1:c.737C>T	NP_001308942.1:p.Pro246Leu
NM_001322014.1:c.1310C>T	NP_001308943.1:p.Pro437Leu
NM_001322015.1:c.1001C>T	NP_001308944.1:p.Pro334Leu
NR_136154.1:n.1397C>T
XM_006715744.4:c.377C>T	XP_006715807.1:p.Pro126Leu
XM_017012342.2:c.377C>T	XP_016867831.1:p.Pro126Leu
XM_024446800.1:c.749C>T	XP_024302568.1:p.Pro250Leu
NM_000535.7:c.1310C>T MANE Select	NP_000526.2:p.Pro437Leu
NM_001322003.2:c.905C>T	NP_001308932.1:p.Pro302Leu
NM_001322004.2:c.905C>T	NP_001308933.1:p.Pro302Leu
NM_001322005.2:c.905C>T	NP_001308934.1:p.Pro302Leu
NM_001322006.2:c.1154C>T	NP_001308935.1:p.Pro385Leu
NM_001322008.2:c.992C>T	NP_001308937.1:p.Pro331Leu
NM_001322009.2:c.905C>T	NP_001308938.1:p.Pro302Leu
NM_001322010.2:c.749C>T	NP_001308939.1:p.Pro250Leu
NM_001322011.2:c.377C>T	NP_001308940.1:p.Pro126Leu
NM_001322012.2:c.377C>T	NP_001308941.1:p.Pro126Leu
NM_001322013.2:c.737C>T	NP_001308942.1:p.Pro246Leu
NM_001322014.2:c.1310C>T	NP_001308943.1:p.Pro437Leu
NM_001322015.2:c.1001C>T	NP_001308944.1:p.Pro334Leu
NM_001322007.2:c.992C>T	NP_001308936.1:p.Pro331Leu