Canonical Allele Identifier: CA366738880

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1784116
• ClinVar RCV Id: RCV002417053
• MyVariant Identifiers: chr7:g.6026397C>A (hg19) ; chr7:g.5986766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986766C>A , CM000669.2:g.5986766C>A	GRCh38
NC_000007.13:g.6026397C>A , CM000669.1:g.6026397C>A	GRCh37
NC_000007.12:g.5992923C>A	NCBI36
NG_008466.1:g.27341G>T , LRG_161:g.27341G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1395G>T	ENSP00000514615.2:n.*1395G>T
ENST00000699840.2:c.1996G>T	ENSP00000514638.2:p.Glu666Ter
ENST00000699930.2:c.1891G>T	ENSP00000514695.2:p.Glu631Ter
ENST00000406569.8:c.1678+321G>T	ENSP00000514464.1:n.1678+321G>T
ENST00000644110.2:c.*1593G>T	ENSP00000496392.2:n.*1593G>T
ENST00000699752.1:c.1843G>T	ENSP00000514561.1:p.Glu615Ter
ENST00000699753.1:c.*1420G>T	ENSP00000514562.1:n.*1420G>T
ENST00000699754.1:c.1801G>T	ENSP00000514563.1:p.Glu601Ter
ENST00000699755.1:c.*1398G>T	ENSP00000514564.1:n.*1398G>T
ENST00000699756.1:c.*1586G>T	ENSP00000514565.1:n.*1586G>T
ENST00000699757.1:c.*1256G>T	ENSP00000514566.1:n.*1256G>T
ENST00000699758.1:c.*1256G>T	ENSP00000514567.1:n.*1256G>T
ENST00000699759.1:n.2853G>T
ENST00000699760.1:c.1681G>T	ENSP00000514568.1:p.Glu561Ter
ENST00000699761.1:c.1594G>T	ENSP00000514569.1:p.Glu532Ter
ENST00000699762.1:c.1426G>T	ENSP00000514570.1:p.Glu476Ter
ENST00000699763.1:c.*1089G>T	ENSP00000514571.1:n.*1089G>T
ENST00000699764.1:c.*317G>T	ENSP00000514572.1:n.*317G>T
ENST00000699765.1:c.*1095G>T	ENSP00000514573.1:n.*1095G>T
ENST00000699766.1:c.1999G>T	ENSP00000514574.1:p.Glu667Ter
ENST00000699767.1:c.1999G>T	ENSP00000514575.1:p.Glu667Ter
ENST00000699768.1:c.1999G>T	ENSP00000514576.1:p.Glu667Ter
ENST00000699811.1:c.1594G>T	ENSP00000514614.1:p.Glu532Ter
ENST00000699813.1:n.2112G>T
ENST00000699814.1:c.1622G>T
ENST00000699815.1:c.*1530G>T	ENSP00000514616.1:n.*1530G>T
ENST00000699816.1:c.*889G>T	ENSP00000514617.1:n.*889G>T
ENST00000699817.1:c.*1593G>T	ENSP00000514618.1:n.*1593G>T
ENST00000699818.1:c.1594G>T	ENSP00000514619.1:p.Glu532Ter
ENST00000699819.1:c.*1156G>T	ENSP00000514620.1:n.*1156G>T
ENST00000699820.1:c.1144+3034G>T	ENSP00000514621.1:n.1144+3034G>T
ENST00000699821.1:c.1594G>T	ENSP00000514622.1:p.Glu532Ter
ENST00000699822.1:c.*1451G>T	ENSP00000514623.1:n.*1451G>T
ENST00000699823.1:c.1594G>T	ENSP00000514624.1:p.Glu532Ter
ENST00000699824.1:c.*1502G>T	ENSP00000514625.1:n.*1502G>T
ENST00000699825.1:c.1438G>T	ENSP00000514626.1:p.Glu480Ter
ENST00000699826.1:c.*1398G>T	ENSP00000514627.1:n.*1398G>T
ENST00000699827.1:c.1831G>T	ENSP00000514628.1:p.Glu611Ter
ENST00000699828.1:c.*1089G>T	ENSP00000514629.1:n.*1089G>T
ENST00000699833.1:n.3771G>T
ENST00000699837.1:c.1594G>T	ENSP00000514635.1:p.Glu532Ter
ENST00000699838.1:c.*1899G>T	ENSP00000514636.1:n.*1899G>T
ENST00000699839.1:c.2185G>T	ENSP00000514637.1:p.Glu729Ter
ENST00000699916.1:c.*1256G>T	ENSP00000514684.1:n.*1256G>T
ENST00000699917.1:c.*1448G>T	ENSP00000514685.1:n.*1448G>T
ENST00000699918.1:c.*1500G>T	ENSP00000514686.1:n.*1500G>T
ENST00000699919.1:c.*1586G>T	ENSP00000514687.1:n.*1586G>T
ENST00000699920.1:c.*1635G>T	ENSP00000514688.1:n.*1635G>T
ENST00000699928.1:c.989-3775G>T	ENSP00000514693.1:n.989-3775G>T
ENST00000699951.1:c.*1095G>T	ENSP00000514706.1:n.*1095G>T
ENST00000699952.1:c.803+10560G>T	ENSP00000514707.1:n.803+10560G>T
ENST00000265849.12:c.1999G>T MANE Select	ENSP00000265849.7:p.Glu667Ter
ENST00000642292.1:c.1594G>T	ENSP00000495524.1:p.Glu532Ter
ENST00000642456.1:c.1594G>T	ENSP00000493814.1:p.Glu532Ter
ENST00000643595.1:c.*1398G>T	ENSP00000494497.1:n.*1398G>T
ENST00000644110.1:c.1681G>T	ENSP00000496392.1:p.Glu561Ter
ENST00000265849.11:c.1999G>T	ENSP00000265849.7:p.Glu667Ter
ENST00000382321.5:c.804-3775G>T	ENSP00000371758.4:n.804-3775G>T
ENST00000406569.7:n.1678+321G>T
ENST00000441476.6:c.1681G>T	ENSP00000392843.2:p.Glu561Ter
ENST00000469652.1:n.63-3861G>T
NM_000535.5:c.1999G>T , LRG_161t1:c.1999G>T	NP_000526.1:p.Glu667Ter
NR_003085.2:n.2081G>T
XM_006715742.2:c.1993G>T	XP_006715805.1:p.Glu665Ter
XM_006715744.2:c.1066G>T	XP_006715807.1:p.Glu356Ter
XM_011515427.1:c.2044G>T	XP_011513729.1:p.Glu682Ter
XM_011515428.1:c.1888G>T	XP_011513730.1:p.Glu630Ter
XM_011515429.1:c.1681G>T	XP_011513731.1:p.Glu561Ter
XM_011515430.1:c.1681G>T	XP_011513732.1:p.Glu561Ter
NM_000535.6:c.1999G>T	NP_000526.2:p.Glu667Ter
NM_001322003.1:c.1594G>T	NP_001308932.1:p.Glu532Ter
NM_001322004.1:c.1594G>T	NP_001308933.1:p.Glu532Ter
NM_001322005.1:c.1594G>T	NP_001308934.1:p.Glu532Ter
NM_001322006.1:c.1843G>T	NP_001308935.1:p.Glu615Ter
NM_001322007.1:c.1681G>T	NP_001308936.1:p.Glu561Ter
NM_001322008.1:c.1681G>T	NP_001308937.1:p.Glu561Ter
NM_001322009.1:c.1594G>T	NP_001308938.1:p.Glu532Ter
NM_001322010.1:c.1438G>T	NP_001308939.1:p.Glu480Ter
NM_001322011.1:c.1066G>T	NP_001308940.1:p.Glu356Ter
NM_001322012.1:c.1066G>T	NP_001308941.1:p.Glu356Ter
NM_001322013.1:c.1426G>T	NP_001308942.1:p.Glu476Ter
NM_001322014.1:c.1999G>T	NP_001308943.1:p.Glu667Ter
NM_001322015.1:c.1690G>T	NP_001308944.1:p.Glu564Ter
NR_136154.1:n.2086G>T
XM_006715744.4:c.1066G>T	XP_006715807.1:p.Glu356Ter
XM_017012342.2:c.1066G>T	XP_016867831.1:p.Glu356Ter
XM_024446800.1:c.1438G>T	XP_024302568.1:p.Glu480Ter
NM_000535.7:c.1999G>T MANE Select	NP_000526.2:p.Glu667Ter
NM_001322003.2:c.1594G>T	NP_001308932.1:p.Glu532Ter
NM_001322004.2:c.1594G>T	NP_001308933.1:p.Glu532Ter
NM_001322005.2:c.1594G>T	NP_001308934.1:p.Glu532Ter
NM_001322006.2:c.1843G>T	NP_001308935.1:p.Glu615Ter
NM_001322008.2:c.1681G>T	NP_001308937.1:p.Glu561Ter
NM_001322009.2:c.1594G>T	NP_001308938.1:p.Glu532Ter
NM_001322010.2:c.1438G>T	NP_001308939.1:p.Glu480Ter
NM_001322011.2:c.1066G>T	NP_001308940.1:p.Glu356Ter
NM_001322012.2:c.1066G>T	NP_001308941.1:p.Glu356Ter
NM_001322013.2:c.1426G>T	NP_001308942.1:p.Glu476Ter
NM_001322014.2:c.1999G>T	NP_001308943.1:p.Glu667Ter
NM_001322015.2:c.1690G>T	NP_001308944.1:p.Glu564Ter
NM_001322007.2:c.1681G>T	NP_001308936.1:p.Glu561Ter