Canonical Allele Identifier: CA453643425

Gene: PMS2

Linked Data

• ClinVar Variation Id: 3231999
• ClinVar RCV Id: RCV004518714
• MyVariant Identifiers: chr7:g.6022565T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982934T>G , CM000669.2:g.5982934T>G	GRCh38
NC_000007.13:g.6022565T>G , CM000669.1:g.6022565T>G	GRCh37
NC_000007.12:g.5989091T>G	NCBI36
NG_008466.1:g.31173A>C , LRG_161:g.31173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1460A>C	ENSP00000514615.2:n.*1460A>C
ENST00000699840.2:c.2061A>C	ENSP00000514638.2:p.Ile687=
ENST00000699930.2:c.1956A>C	ENSP00000514695.2:p.Ile652=
ENST00000406569.8:c.1678+4153A>C	ENSP00000514464.1:n.1678+4153A>C
ENST00000644110.2:c.*1658A>C	ENSP00000496392.2:n.*1658A>C
ENST00000699752.1:c.1908A>C	ENSP00000514561.1:p.Ile636=
ENST00000699753.1:c.*1485A>C	ENSP00000514562.1:n.*1485A>C
ENST00000699754.1:c.1866A>C	ENSP00000514563.1:p.Ile622=
ENST00000699755.1:c.*1463A>C	ENSP00000514564.1:n.*1463A>C
ENST00000699756.1:c.*1651A>C	ENSP00000514565.1:n.*1651A>C
ENST00000699757.1:c.*1321A>C	ENSP00000514566.1:n.*1321A>C
ENST00000699758.1:c.*1321A>C	ENSP00000514567.1:n.*1321A>C
ENST00000699759.1:n.2918A>C
ENST00000699760.1:c.1746A>C	ENSP00000514568.1:p.Ile582=
ENST00000699761.1:c.1659A>C	ENSP00000514569.1:p.Ile553=
ENST00000699762.1:c.1491A>C	ENSP00000514570.1:p.Ile497=
ENST00000699763.1:c.*1154A>C	ENSP00000514571.1:n.*1154A>C
ENST00000699764.1:c.*382A>C	ENSP00000514572.1:n.*382A>C
ENST00000699765.1:c.*1160A>C	ENSP00000514573.1:n.*1160A>C
ENST00000699766.1:c.2064A>C	ENSP00000514574.1:p.Ile688=
ENST00000699767.1:c.2064A>C	ENSP00000514575.1:p.Ile688=
ENST00000699768.1:c.2064A>C	ENSP00000514576.1:p.Ile688=
ENST00000699811.1:c.1659A>C	ENSP00000514614.1:p.Ile553=
ENST00000699813.1:n.2177A>C
ENST00000699814.1:c.1687A>C
ENST00000699815.1:c.*1595A>C	ENSP00000514616.1:n.*1595A>C
ENST00000699816.1:c.*954A>C	ENSP00000514617.1:n.*954A>C
ENST00000699817.1:c.*1658A>C	ENSP00000514618.1:n.*1658A>C
ENST00000699818.1:c.1659A>C	ENSP00000514619.1:p.Ile553=
ENST00000699819.1:c.*1221A>C	ENSP00000514620.1:n.*1221A>C
ENST00000699820.1:c.*2A>C	ENSP00000514621.1:n.*2A>C
ENST00000699821.1:c.1659A>C	ENSP00000514622.1:p.Ile553=
ENST00000699822.1:c.*1516A>C	ENSP00000514623.1:n.*1516A>C
ENST00000699823.1:c.1659A>C	ENSP00000514624.1:p.Ile553=
ENST00000699824.1:c.*1567A>C	ENSP00000514625.1:n.*1567A>C
ENST00000699825.1:c.1503A>C	ENSP00000514626.1:p.Ile501=
ENST00000699826.1:c.*1463A>C	ENSP00000514627.1:n.*1463A>C
ENST00000699827.1:c.1896A>C	ENSP00000514628.1:p.Ile632=
ENST00000699828.1:c.*1154A>C	ENSP00000514629.1:n.*1154A>C
ENST00000699833.1:n.3836A>C
ENST00000699837.1:c.1659A>C	ENSP00000514635.1:p.Ile553=
ENST00000699838.1:c.*1964A>C	ENSP00000514636.1:n.*1964A>C
ENST00000699839.1:c.2250A>C	ENSP00000514637.1:p.Ile750=
ENST00000699916.1:c.*1321A>C	ENSP00000514684.1:n.*1321A>C
ENST00000699917.1:c.*1513A>C	ENSP00000514685.1:n.*1513A>C
ENST00000699918.1:c.*1565A>C	ENSP00000514686.1:n.*1565A>C
ENST00000699919.1:c.*1651A>C	ENSP00000514687.1:n.*1651A>C
ENST00000699920.1:c.*1700A>C	ENSP00000514688.1:n.*1700A>C
ENST00000699928.1:c.*2A>C	ENSP00000514693.1:n.*2A>C
ENST00000699951.1:c.*1160A>C	ENSP00000514706.1:n.*1160A>C
ENST00000699952.1:c.804-9392A>C	ENSP00000514707.1:n.804-9392A>C
ENST00000265849.12:c.2064A>C MANE Select	ENSP00000265849.7:p.Ile688=
ENST00000642292.1:c.1659A>C	ENSP00000495524.1:p.Ile553=
ENST00000642456.1:c.1659A>C	ENSP00000493814.1:p.Ile553=
ENST00000643595.1:c.*1463A>C	ENSP00000494497.1:n.*1463A>C
ENST00000644110.1:c.1746A>C	ENSP00000496392.1:p.Ile582=
ENST00000265849.11:c.2064A>C	ENSP00000265849.7:p.Ile688=
ENST00000382321.5:c.861A>C	ENSP00000371758.4:p.Ile287=
ENST00000406569.7:n.1678+4153A>C
ENST00000441476.6:c.1746A>C	ENSP00000392843.2:p.Ile582=
ENST00000469652.1:n.63-29A>C
NM_000535.5:c.2064A>C , LRG_161t1:c.2064A>C	NP_000526.1:p.Ile688=
NR_003085.2:n.2146A>C
XM_006715742.2:c.2058A>C	XP_006715805.1:p.Ile686=
XM_006715744.2:c.1131A>C	XP_006715807.1:p.Ile377=
XM_011515427.1:c.2109A>C	XP_011513729.1:p.Ile703=
XM_011515428.1:c.1953A>C	XP_011513730.1:p.Ile651=
XM_011515429.1:c.1746A>C	XP_011513731.1:p.Ile582=
XM_011515430.1:c.1746A>C	XP_011513732.1:p.Ile582=
NM_000535.6:c.2064A>C	NP_000526.2:p.Ile688=
NM_001322003.1:c.1659A>C	NP_001308932.1:p.Ile553=
NM_001322004.1:c.1659A>C	NP_001308933.1:p.Ile553=
NM_001322005.1:c.1659A>C	NP_001308934.1:p.Ile553=
NM_001322006.1:c.1908A>C	NP_001308935.1:p.Ile636=
NM_001322007.1:c.1746A>C	NP_001308936.1:p.Ile582=
NM_001322008.1:c.1746A>C	NP_001308937.1:p.Ile582=
NM_001322009.1:c.1659A>C	NP_001308938.1:p.Ile553=
NM_001322010.1:c.1503A>C	NP_001308939.1:p.Ile501=
NM_001322011.1:c.1131A>C	NP_001308940.1:p.Ile377=
NM_001322012.1:c.1131A>C	NP_001308941.1:p.Ile377=
NM_001322013.1:c.1491A>C	NP_001308942.1:p.Ile497=
NM_001322014.1:c.2064A>C	NP_001308943.1:p.Ile688=
NM_001322015.1:c.1755A>C	NP_001308944.1:p.Ile585=
NR_136154.1:n.2151A>C
XM_006715744.4:c.1131A>C	XP_006715807.1:p.Ile377=
XM_017012342.2:c.1131A>C	XP_016867831.1:p.Ile377=
XM_024446800.1:c.1503A>C	XP_024302568.1:p.Ile501=
NM_000535.7:c.2064A>C MANE Select	NP_000526.2:p.Ile688=
NM_001322003.2:c.1659A>C	NP_001308932.1:p.Ile553=
NM_001322004.2:c.1659A>C	NP_001308933.1:p.Ile553=
NM_001322005.2:c.1659A>C	NP_001308934.1:p.Ile553=
NM_001322006.2:c.1908A>C	NP_001308935.1:p.Ile636=
NM_001322008.2:c.1746A>C	NP_001308937.1:p.Ile582=
NM_001322009.2:c.1659A>C	NP_001308938.1:p.Ile553=
NM_001322010.2:c.1503A>C	NP_001308939.1:p.Ile501=
NM_001322011.2:c.1131A>C	NP_001308940.1:p.Ile377=
NM_001322012.2:c.1131A>C	NP_001308941.1:p.Ile377=
NM_001322013.2:c.1491A>C	NP_001308942.1:p.Ile497=
NM_001322014.2:c.2064A>C	NP_001308943.1:p.Ile688=
NM_001322015.2:c.1755A>C	NP_001308944.1:p.Ile585=
NM_001322007.2:c.1746A>C	NP_001308936.1:p.Ile582=