Canonical Allele Identifier: CA366741974

Gene: PMS2

Linked Data

• dbSNP Id: rs2128730600
• MyVariant Identifiers: chr7:g.6026955G>A (hg19) ; chr7:g.5987324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987324G>A , CM000669.2:g.5987324G>A	GRCh38
NC_000007.13:g.6026955G>A , CM000669.1:g.6026955G>A	GRCh37
NC_000007.12:g.5993481G>A	NCBI36
NG_008466.1:g.26783C>T , LRG_161:g.26783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*837C>T	ENSP00000514615.2:n.*837C>T
ENST00000699840.2:c.1438C>T	ENSP00000514638.2:p.Pro480Ser
ENST00000699930.2:c.1333C>T	ENSP00000514695.2:p.Pro445Ser
ENST00000406569.8:c.1441C>T	ENSP00000514464.1:p.Pro481Ser
ENST00000644110.2:c.*1035C>T	ENSP00000496392.2:n.*1035C>T
ENST00000699752.1:c.1285C>T	ENSP00000514561.1:p.Pro429Ser
ENST00000699753.1:c.*862C>T	ENSP00000514562.1:n.*862C>T
ENST00000699754.1:c.1243C>T	ENSP00000514563.1:p.Pro415Ser
ENST00000699755.1:c.*840C>T	ENSP00000514564.1:n.*840C>T
ENST00000699756.1:c.*1028C>T	ENSP00000514565.1:n.*1028C>T
ENST00000699757.1:c.*698C>T	ENSP00000514566.1:n.*698C>T
ENST00000699758.1:c.*698C>T	ENSP00000514567.1:n.*698C>T
ENST00000699759.1:n.2295C>T
ENST00000699760.1:c.1123C>T	ENSP00000514568.1:p.Pro375Ser
ENST00000699761.1:c.1036C>T	ENSP00000514569.1:p.Pro346Ser
ENST00000699762.1:c.868C>T	ENSP00000514570.1:p.Pro290Ser
ENST00000699763.1:c.*531C>T	ENSP00000514571.1:n.*531C>T
ENST00000699764.1:c.1441C>T	ENSP00000514572.1:p.Pro481Ser
ENST00000699765.1:c.*537C>T	ENSP00000514573.1:n.*537C>T
ENST00000699766.1:c.1441C>T	ENSP00000514574.1:p.Pro481Ser
ENST00000699767.1:c.1441C>T	ENSP00000514575.1:p.Pro481Ser
ENST00000699768.1:c.1441C>T	ENSP00000514576.1:p.Pro481Ser
ENST00000699811.1:c.1036C>T	ENSP00000514614.1:p.Pro346Ser
ENST00000699813.1:n.1554C>T
ENST00000699814.1:c.1064C>T
ENST00000699815.1:c.*972C>T	ENSP00000514616.1:n.*972C>T
ENST00000699816.1:c.*331C>T	ENSP00000514617.1:n.*331C>T
ENST00000699817.1:c.*1035C>T	ENSP00000514618.1:n.*1035C>T
ENST00000699818.1:c.1036C>T	ENSP00000514619.1:p.Pro346Ser
ENST00000699819.1:c.*598C>T	ENSP00000514620.1:n.*598C>T
ENST00000699820.1:c.1144+2476C>T	ENSP00000514621.1:n.1144+2476C>T
ENST00000699821.1:c.1036C>T	ENSP00000514622.1:p.Pro346Ser
ENST00000699822.1:c.*893C>T	ENSP00000514623.1:n.*893C>T
ENST00000699823.1:c.1036C>T	ENSP00000514624.1:p.Pro346Ser
ENST00000699824.1:c.*944C>T	ENSP00000514625.1:n.*944C>T
ENST00000699825.1:c.880C>T	ENSP00000514626.1:p.Pro294Ser
ENST00000699826.1:c.*840C>T	ENSP00000514627.1:n.*840C>T
ENST00000699827.1:c.1273C>T	ENSP00000514628.1:p.Pro425Ser
ENST00000699828.1:c.*531C>T	ENSP00000514629.1:n.*531C>T
ENST00000699833.1:n.3213C>T
ENST00000699837.1:c.1036C>T	ENSP00000514635.1:p.Pro346Ser
ENST00000699838.1:c.*1341C>T	ENSP00000514636.1:n.*1341C>T
ENST00000699839.1:c.1627C>T	ENSP00000514637.1:p.Pro543Ser
ENST00000699916.1:c.*698C>T	ENSP00000514684.1:n.*698C>T
ENST00000699917.1:c.*890C>T	ENSP00000514685.1:n.*890C>T
ENST00000699918.1:c.*942C>T	ENSP00000514686.1:n.*942C>T
ENST00000699919.1:c.*1028C>T	ENSP00000514687.1:n.*1028C>T
ENST00000699920.1:c.*1077C>T	ENSP00000514688.1:n.*1077C>T
ENST00000699928.1:c.989-4333C>T	ENSP00000514693.1:n.989-4333C>T
ENST00000699929.1:c.*742C>T	ENSP00000514694.1:n.*742C>T
ENST00000699930.1:c.1333C>T	ENSP00000514695.1:p.Pro445Ser
ENST00000699931.1:n.2869C>T
ENST00000699951.1:c.*537C>T	ENSP00000514706.1:n.*537C>T
ENST00000699952.1:c.803+10002C>T	ENSP00000514707.1:n.803+10002C>T
ENST00000699953.1:c.*548C>T	ENSP00000514708.1:n.*548C>T
ENST00000699954.1:c.*742C>T	ENSP00000514709.1:n.*742C>T
ENST00000265849.12:c.1441C>T MANE Select	ENSP00000265849.7:p.Pro481Ser
ENST00000642292.1:c.1036C>T	ENSP00000495524.1:p.Pro346Ser
ENST00000642456.1:c.1036C>T	ENSP00000493814.1:p.Pro346Ser
ENST00000643595.1:c.*840C>T	ENSP00000494497.1:n.*840C>T
ENST00000644110.1:c.1123C>T	ENSP00000496392.1:p.Pro375Ser
ENST00000265849.11:c.1441C>T	ENSP00000265849.7:p.Pro481Ser
ENST00000382321.5:c.804-4333C>T	ENSP00000371758.4:n.804-4333C>T
ENST00000406569.7:n.1441C>T
ENST00000441476.6:c.1123C>T	ENSP00000392843.2:p.Pro375Ser
ENST00000469652.1:n.63-4419C>T
NM_000535.5:c.1441C>T , LRG_161t1:c.1441C>T	NP_000526.1:p.Pro481Ser
NR_003085.2:n.1523C>T
XM_006715742.2:c.1435C>T	XP_006715805.1:p.Pro479Ser
XM_006715744.2:c.508C>T	XP_006715807.1:p.Pro170Ser
XM_011515427.1:c.1486C>T	XP_011513729.1:p.Pro496Ser
XM_011515428.1:c.1330C>T	XP_011513730.1:p.Pro444Ser
XM_011515429.1:c.1123C>T	XP_011513731.1:p.Pro375Ser
XM_011515430.1:c.1123C>T	XP_011513732.1:p.Pro375Ser
NM_000535.6:c.1441C>T	NP_000526.2:p.Pro481Ser
NM_001322003.1:c.1036C>T	NP_001308932.1:p.Pro346Ser
NM_001322004.1:c.1036C>T	NP_001308933.1:p.Pro346Ser
NM_001322005.1:c.1036C>T	NP_001308934.1:p.Pro346Ser
NM_001322006.1:c.1285C>T	NP_001308935.1:p.Pro429Ser
NM_001322007.1:c.1123C>T	NP_001308936.1:p.Pro375Ser
NM_001322008.1:c.1123C>T	NP_001308937.1:p.Pro375Ser
NM_001322009.1:c.1036C>T	NP_001308938.1:p.Pro346Ser
NM_001322010.1:c.880C>T	NP_001308939.1:p.Pro294Ser
NM_001322011.1:c.508C>T	NP_001308940.1:p.Pro170Ser
NM_001322012.1:c.508C>T	NP_001308941.1:p.Pro170Ser
NM_001322013.1:c.868C>T	NP_001308942.1:p.Pro290Ser
NM_001322014.1:c.1441C>T	NP_001308943.1:p.Pro481Ser
NM_001322015.1:c.1132C>T	NP_001308944.1:p.Pro378Ser
NR_136154.1:n.1528C>T
XM_006715744.4:c.508C>T	XP_006715807.1:p.Pro170Ser
XM_017012342.2:c.508C>T	XP_016867831.1:p.Pro170Ser
XM_024446800.1:c.880C>T	XP_024302568.1:p.Pro294Ser
NM_000535.7:c.1441C>T MANE Select	NP_000526.2:p.Pro481Ser
NM_001322003.2:c.1036C>T	NP_001308932.1:p.Pro346Ser
NM_001322004.2:c.1036C>T	NP_001308933.1:p.Pro346Ser
NM_001322005.2:c.1036C>T	NP_001308934.1:p.Pro346Ser
NM_001322006.2:c.1285C>T	NP_001308935.1:p.Pro429Ser
NM_001322008.2:c.1123C>T	NP_001308937.1:p.Pro375Ser
NM_001322009.2:c.1036C>T	NP_001308938.1:p.Pro346Ser
NM_001322010.2:c.880C>T	NP_001308939.1:p.Pro294Ser
NM_001322011.2:c.508C>T	NP_001308940.1:p.Pro170Ser
NM_001322012.2:c.508C>T	NP_001308941.1:p.Pro170Ser
NM_001322013.2:c.868C>T	NP_001308942.1:p.Pro290Ser
NM_001322014.2:c.1441C>T	NP_001308943.1:p.Pro481Ser
NM_001322015.2:c.1132C>T	NP_001308944.1:p.Pro378Ser
NM_001322007.2:c.1123C>T	NP_001308936.1:p.Pro375Ser