Canonical Allele Identifier: CA366735786

Gene: PMS2

Linked Data

• ClinVar Variation Id: 960950
• ClinVar RCV Id: RCV001234564 ; RCV002447172
• dbSNP Id: rs864622765
• MyVariant Identifiers: chr7:g.6017291G>C (hg19) ; chr7:g.5977660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977660G>C , CM000669.2:g.5977660G>C	GRCh38
NC_000007.13:g.6017291G>C , CM000669.1:g.6017291G>C	GRCh37
NC_000007.12:g.5983817G>C	NCBI36
NG_008466.1:g.36447C>G , LRG_161:g.36447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1769C>G	ENSP00000514615.2:n.*1769C>G
ENST00000699840.2:c.2370C>G	ENSP00000514638.2:p.Ser790Arg
ENST00000699930.2:c.2265C>G	ENSP00000514695.2:p.Ser755Arg
ENST00000406569.8:c.1733C>G	ENSP00000514464.1:n.1733C>G
ENST00000644110.2:c.*1967C>G	ENSP00000496392.2:n.*1967C>G
ENST00000699752.1:c.2217C>G	ENSP00000514561.1:p.Ser739Arg
ENST00000699753.1:c.*1794C>G	ENSP00000514562.1:n.*1794C>G
ENST00000699754.1:c.2175C>G	ENSP00000514563.1:p.Ser725Arg
ENST00000699755.1:c.*1772C>G	ENSP00000514564.1:n.*1772C>G
ENST00000699756.1:c.*1960C>G	ENSP00000514565.1:n.*1960C>G
ENST00000699757.1:c.*1630C>G	ENSP00000514566.1:n.*1630C>G
ENST00000699758.1:c.*1630C>G	ENSP00000514567.1:n.*1630C>G
ENST00000699759.1:n.3227C>G
ENST00000699760.1:c.2055C>G	ENSP00000514568.1:p.Ser685Arg
ENST00000699761.1:c.1968C>G	ENSP00000514569.1:p.Ser656Arg
ENST00000699762.1:c.1800C>G	ENSP00000514570.1:p.Ser600Arg
ENST00000699763.1:c.*1463C>G	ENSP00000514571.1:n.*1463C>G
ENST00000699764.1:c.*691C>G	ENSP00000514572.1:n.*691C>G
ENST00000699765.1:c.*1368C>G	ENSP00000514573.1:n.*1368C>G
ENST00000699766.1:c.2406C>G	ENSP00000514574.1:p.Ser802Arg
ENST00000699767.1:c.*14C>G	ENSP00000514575.1:n.*14C>G
ENST00000699768.1:c.2229C>G	ENSP00000514576.1:p.Ser743Arg
ENST00000699811.1:c.1968C>G	ENSP00000514614.1:p.Ser656Arg
ENST00000699813.1:n.2486C>G
ENST00000699814.1:c.1996C>G
ENST00000699815.1:c.*1904C>G	ENSP00000514616.1:n.*1904C>G
ENST00000699816.1:c.*1263C>G	ENSP00000514617.1:n.*1263C>G
ENST00000699817.1:c.*1967C>G	ENSP00000514618.1:n.*1967C>G
ENST00000699818.1:c.1968C>G	ENSP00000514619.1:p.Ser656Arg
ENST00000699819.1:c.*1530C>G	ENSP00000514620.1:n.*1530C>G
ENST00000699820.1:c.*311C>G	ENSP00000514621.1:n.*311C>G
ENST00000699821.1:c.2001C>G	ENSP00000514622.1:p.Ser667Arg
ENST00000699822.1:c.*1825C>G	ENSP00000514623.1:n.*1825C>G
ENST00000699823.1:c.1968C>G	ENSP00000514624.1:p.Ser656Arg
ENST00000699824.1:c.*1876C>G	ENSP00000514625.1:n.*1876C>G
ENST00000699825.1:c.1812C>G	ENSP00000514626.1:p.Ser604Arg
ENST00000699826.1:c.*1772C>G	ENSP00000514627.1:n.*1772C>G
ENST00000699827.1:c.2205C>G	ENSP00000514628.1:p.Ser735Arg
ENST00000699828.1:c.*1463C>G	ENSP00000514629.1:n.*1463C>G
ENST00000699833.1:n.4145C>G
ENST00000699837.1:c.1968C>G	ENSP00000514635.1:p.Ser656Arg
ENST00000699838.1:c.*2273C>G	ENSP00000514636.1:n.*2273C>G
ENST00000699839.1:c.2559C>G	ENSP00000514637.1:p.Ser853Arg
ENST00000699916.1:c.*1630C>G	ENSP00000514684.1:n.*1630C>G
ENST00000699917.1:c.*1822C>G	ENSP00000514685.1:n.*1822C>G
ENST00000699918.1:c.*1874C>G	ENSP00000514686.1:n.*1874C>G
ENST00000699919.1:c.*1960C>G	ENSP00000514687.1:n.*1960C>G
ENST00000699920.1:c.*2009C>G	ENSP00000514688.1:n.*2009C>G
ENST00000699928.1:c.*311C>G	ENSP00000514693.1:n.*311C>G
ENST00000699951.1:c.*1426C>G	ENSP00000514706.1:n.*1426C>G
ENST00000699952.1:c.804-4118C>G	ENSP00000514707.1:n.804-4118C>G
ENST00000265849.12:c.2373C>G MANE Select	ENSP00000265849.7:p.Ser791Arg
ENST00000642292.1:c.1968C>G	ENSP00000495524.1:p.Ser656Arg
ENST00000642456.1:c.1968C>G	ENSP00000493814.1:p.Ser656Arg
ENST00000643595.1:c.*1772C>G	ENSP00000494497.1:n.*1772C>G
ENST00000644110.1:c.2055C>G	ENSP00000496392.1:p.Ser685Arg
ENST00000265849.11:c.2373C>G	ENSP00000265849.7:p.Ser791Arg
ENST00000382321.5:c.1170C>G	ENSP00000371758.4:p.Ser390Arg
ENST00000441476.6:c.2055C>G	ENSP00000392843.2:p.Ser685Arg
NM_000535.5:c.2373C>G , LRG_161t1:c.2373C>G	NP_000526.1:p.Ser791Arg
NR_003085.2:n.2455C>G
XM_006715742.2:c.2367C>G	XP_006715805.1:p.Ser789Arg
XM_006715744.2:c.1440C>G	XP_006715807.1:p.Ser480Arg
XM_011515427.1:c.2418C>G	XP_011513729.1:p.Ser806Arg
XM_011515428.1:c.2262C>G	XP_011513730.1:p.Ser754Arg
XM_011515429.1:c.2055C>G	XP_011513731.1:p.Ser685Arg
XM_011515430.1:c.2055C>G	XP_011513732.1:p.Ser685Arg
NM_000535.6:c.2373C>G	NP_000526.2:p.Ser791Arg
NM_001322003.1:c.1968C>G	NP_001308932.1:p.Ser656Arg
NM_001322004.1:c.1968C>G	NP_001308933.1:p.Ser656Arg
NM_001322005.1:c.1968C>G	NP_001308934.1:p.Ser656Arg
NM_001322006.1:c.2217C>G	NP_001308935.1:p.Ser739Arg
NM_001322007.1:c.2055C>G	NP_001308936.1:p.Ser685Arg
NM_001322008.1:c.2055C>G	NP_001308937.1:p.Ser685Arg
NM_001322009.1:c.2001C>G	NP_001308938.1:p.Ser667Arg
NM_001322010.1:c.1812C>G	NP_001308939.1:p.Ser604Arg
NM_001322011.1:c.1440C>G	NP_001308940.1:p.Ser480Arg
NM_001322012.1:c.1440C>G	NP_001308941.1:p.Ser480Arg
NM_001322013.1:c.1800C>G	NP_001308942.1:p.Ser600Arg
NM_001322014.1:c.2406C>G	NP_001308943.1:p.Ser802Arg
NM_001322015.1:c.2064C>G	NP_001308944.1:p.Ser688Arg
NR_136154.1:n.2417C>G
XM_006715744.4:c.1440C>G	XP_006715807.1:p.Ser480Arg
XM_017012342.2:c.1440C>G	XP_016867831.1:p.Ser480Arg
XM_024446800.1:c.1812C>G	XP_024302568.1:p.Ser604Arg
NM_000535.7:c.2373C>G MANE Select	NP_000526.2:p.Ser791Arg
NM_001322003.2:c.1968C>G	NP_001308932.1:p.Ser656Arg
NM_001322004.2:c.1968C>G	NP_001308933.1:p.Ser656Arg
NM_001322005.2:c.1968C>G	NP_001308934.1:p.Ser656Arg
NM_001322006.2:c.2217C>G	NP_001308935.1:p.Ser739Arg
NM_001322008.2:c.2055C>G	NP_001308937.1:p.Ser685Arg
NM_001322009.2:c.2001C>G	NP_001308938.1:p.Ser667Arg
NM_001322010.2:c.1812C>G	NP_001308939.1:p.Ser604Arg
NM_001322011.2:c.1440C>G	NP_001308940.1:p.Ser480Arg
NM_001322012.2:c.1440C>G	NP_001308941.1:p.Ser480Arg
NM_001322013.2:c.1800C>G	NP_001308942.1:p.Ser600Arg
NM_001322014.2:c.2406C>G	NP_001308943.1:p.Ser802Arg
NM_001322015.2:c.2064C>G	NP_001308944.1:p.Ser688Arg
NM_001322007.2:c.2055C>G	NP_001308936.1:p.Ser685Arg