Canonical Allele Identifier: CA010800

Gene: PMS2

Linked Data

• ClinVar Variation Id: 140847
• ClinVar RCV Id: RCV000129052 ; RCV000234750 ; RCV000214144 ; RCV003389702 ; RCV003453059
• dbSNP Id: rs587781317
• gnomAD v4: 7-5982903-C-G
• MyVariant Identifiers: chr7:g.6022534C>G (hg19) ; chr7:g.5982903C>G (hg38)
• PubMed: PMID:20205264 ; PMID:23435383 ; PMID:23729388

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982903C>G , CM000669.2:g.5982903C>G	GRCh38
NC_000007.13:g.6022534C>G , CM000669.1:g.6022534C>G	GRCh37
NC_000007.12:g.5989060C>G	NCBI36
NG_008466.1:g.31204G>C , LRG_161:g.31204G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1491G>C	ENSP00000514615.2:n.*1491G>C
ENST00000699840.2:c.2092G>C	ENSP00000514638.2:p.Asp698His
ENST00000699930.2:c.1987G>C	ENSP00000514695.2:p.Asp663His
ENST00000406569.8:c.1678+4184G>C	ENSP00000514464.1:n.1678+4184G>C
ENST00000644110.2:c.*1689G>C	ENSP00000496392.2:n.*1689G>C
ENST00000699752.1:c.1939G>C	ENSP00000514561.1:p.Asp647His
ENST00000699753.1:c.*1516G>C	ENSP00000514562.1:n.*1516G>C
ENST00000699754.1:c.1897G>C	ENSP00000514563.1:p.Asp633His
ENST00000699755.1:c.*1494G>C	ENSP00000514564.1:n.*1494G>C
ENST00000699756.1:c.*1682G>C	ENSP00000514565.1:n.*1682G>C
ENST00000699757.1:c.*1352G>C	ENSP00000514566.1:n.*1352G>C
ENST00000699758.1:c.*1352G>C	ENSP00000514567.1:n.*1352G>C
ENST00000699759.1:n.2949G>C
ENST00000699760.1:c.1777G>C	ENSP00000514568.1:p.Asp593His
ENST00000699761.1:c.1690G>C	ENSP00000514569.1:p.Asp564His
ENST00000699762.1:c.1522G>C	ENSP00000514570.1:p.Asp508His
ENST00000699763.1:c.*1185G>C	ENSP00000514571.1:n.*1185G>C
ENST00000699764.1:c.*413G>C	ENSP00000514572.1:n.*413G>C
ENST00000699765.1:c.*1191G>C	ENSP00000514573.1:n.*1191G>C
ENST00000699766.1:c.2095G>C	ENSP00000514574.1:p.Asp699His
ENST00000699767.1:c.2095G>C	ENSP00000514575.1:p.Asp699His
ENST00000699768.1:c.2095G>C	ENSP00000514576.1:p.Asp699His
ENST00000699811.1:c.1690G>C	ENSP00000514614.1:p.Asp564His
ENST00000699813.1:n.2208G>C
ENST00000699814.1:c.1718G>C
ENST00000699815.1:c.*1626G>C	ENSP00000514616.1:n.*1626G>C
ENST00000699816.1:c.*985G>C	ENSP00000514617.1:n.*985G>C
ENST00000699817.1:c.*1689G>C	ENSP00000514618.1:n.*1689G>C
ENST00000699818.1:c.1690G>C	ENSP00000514619.1:p.Asp564His
ENST00000699819.1:c.*1252G>C	ENSP00000514620.1:n.*1252G>C
ENST00000699820.1:c.*33G>C	ENSP00000514621.1:n.*33G>C
ENST00000699821.1:c.1690G>C	ENSP00000514622.1:p.Asp564His
ENST00000699822.1:c.*1547G>C	ENSP00000514623.1:n.*1547G>C
ENST00000699823.1:c.1690G>C	ENSP00000514624.1:p.Asp564His
ENST00000699824.1:c.*1598G>C	ENSP00000514625.1:n.*1598G>C
ENST00000699825.1:c.1534G>C	ENSP00000514626.1:p.Asp512His
ENST00000699826.1:c.*1494G>C	ENSP00000514627.1:n.*1494G>C
ENST00000699827.1:c.1927G>C	ENSP00000514628.1:p.Asp643His
ENST00000699828.1:c.*1185G>C	ENSP00000514629.1:n.*1185G>C
ENST00000699833.1:n.3867G>C
ENST00000699837.1:c.1690G>C	ENSP00000514635.1:p.Asp564His
ENST00000699838.1:c.*1995G>C	ENSP00000514636.1:n.*1995G>C
ENST00000699839.1:c.2281G>C	ENSP00000514637.1:p.Asp761His
ENST00000699916.1:c.*1352G>C	ENSP00000514684.1:n.*1352G>C
ENST00000699917.1:c.*1544G>C	ENSP00000514685.1:n.*1544G>C
ENST00000699918.1:c.*1596G>C	ENSP00000514686.1:n.*1596G>C
ENST00000699919.1:c.*1682G>C	ENSP00000514687.1:n.*1682G>C
ENST00000699920.1:c.*1731G>C	ENSP00000514688.1:n.*1731G>C
ENST00000699928.1:c.*33G>C	ENSP00000514693.1:n.*33G>C
ENST00000699951.1:c.*1191G>C	ENSP00000514706.1:n.*1191G>C
ENST00000699952.1:c.804-9361G>C	ENSP00000514707.1:n.804-9361G>C
ENST00000265849.12:c.2095G>C MANE Select	ENSP00000265849.7:p.Asp699His
ENST00000642292.1:c.1690G>C	ENSP00000495524.1:p.Asp564His
ENST00000642456.1:c.1690G>C	ENSP00000493814.1:p.Asp564His
ENST00000643595.1:c.*1494G>C	ENSP00000494497.1:n.*1494G>C
ENST00000644110.1:c.1777G>C	ENSP00000496392.1:p.Asp593His
ENST00000265849.11:c.2095G>C	ENSP00000265849.7:p.Asp699His
ENST00000382321.5:c.892G>C	ENSP00000371758.4:p.Asp298His
ENST00000406569.7:n.1678+4184G>C
ENST00000441476.6:c.1777G>C	ENSP00000392843.2:p.Asp593His
ENST00000469652.1:n.65G>C
NM_000535.5:c.2095G>C , LRG_161t1:c.2095G>C	NP_000526.1:p.Asp699His
NR_003085.2:n.2177G>C
XM_006715742.2:c.2089G>C	XP_006715805.1:p.Asp697His
XM_006715744.2:c.1162G>C	XP_006715807.1:p.Asp388His
XM_011515427.1:c.2140G>C	XP_011513729.1:p.Asp714His
XM_011515428.1:c.1984G>C	XP_011513730.1:p.Asp662His
XM_011515429.1:c.1777G>C	XP_011513731.1:p.Asp593His
XM_011515430.1:c.1777G>C	XP_011513732.1:p.Asp593His
NM_000535.6:c.2095G>C	NP_000526.2:p.Asp699His
NM_001322003.1:c.1690G>C	NP_001308932.1:p.Asp564His
NM_001322004.1:c.1690G>C	NP_001308933.1:p.Asp564His
NM_001322005.1:c.1690G>C	NP_001308934.1:p.Asp564His
NM_001322006.1:c.1939G>C	NP_001308935.1:p.Asp647His
NM_001322007.1:c.1777G>C	NP_001308936.1:p.Asp593His
NM_001322008.1:c.1777G>C	NP_001308937.1:p.Asp593His
NM_001322009.1:c.1690G>C	NP_001308938.1:p.Asp564His
NM_001322010.1:c.1534G>C	NP_001308939.1:p.Asp512His
NM_001322011.1:c.1162G>C	NP_001308940.1:p.Asp388His
NM_001322012.1:c.1162G>C	NP_001308941.1:p.Asp388His
NM_001322013.1:c.1522G>C	NP_001308942.1:p.Asp508His
NM_001322014.1:c.2095G>C	NP_001308943.1:p.Asp699His
NM_001322015.1:c.1786G>C	NP_001308944.1:p.Asp596His
NR_136154.1:n.2182G>C
XM_006715744.4:c.1162G>C	XP_006715807.1:p.Asp388His
XM_017012342.2:c.1162G>C	XP_016867831.1:p.Asp388His
XM_024446800.1:c.1534G>C	XP_024302568.1:p.Asp512His
NM_000535.7:c.2095G>C MANE Select	NP_000526.2:p.Asp699His
NM_001322003.2:c.1690G>C	NP_001308932.1:p.Asp564His
NM_001322004.2:c.1690G>C	NP_001308933.1:p.Asp564His
NM_001322005.2:c.1690G>C	NP_001308934.1:p.Asp564His
NM_001322006.2:c.1939G>C	NP_001308935.1:p.Asp647His
NM_001322008.2:c.1777G>C	NP_001308937.1:p.Asp593His
NM_001322009.2:c.1690G>C	NP_001308938.1:p.Asp564His
NM_001322010.2:c.1534G>C	NP_001308939.1:p.Asp512His
NM_001322011.2:c.1162G>C	NP_001308940.1:p.Asp388His
NM_001322012.2:c.1162G>C	NP_001308941.1:p.Asp388His
NM_001322013.2:c.1522G>C	NP_001308942.1:p.Asp508His
NM_001322014.2:c.2095G>C	NP_001308943.1:p.Asp699His
NM_001322015.2:c.1786G>C	NP_001308944.1:p.Asp596His
NM_001322007.2:c.1777G>C	NP_001308936.1:p.Asp593His