Canonical Allele Identifier: CA366735797

Gene: PMS2

Linked Data

• MyVariant Identifiers: chr7:g.6017293T>G (hg19) ; chr7:g.5977662T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977662T>G , CM000669.2:g.5977662T>G	GRCh38
NC_000007.13:g.6017293T>G , CM000669.1:g.6017293T>G	GRCh37
NC_000007.12:g.5983819T>G	NCBI36
NG_008466.1:g.36445A>C , LRG_161:g.36445A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1767A>C	ENSP00000514615.2:n.*1767A>C
ENST00000699840.2:c.2368A>C	ENSP00000514638.2:p.Ser790Arg
ENST00000699930.2:c.2263A>C	ENSP00000514695.2:p.Ser755Arg
ENST00000406569.8:c.1731A>C	ENSP00000514464.1:n.1731A>C
ENST00000644110.2:c.*1965A>C	ENSP00000496392.2:n.*1965A>C
ENST00000699752.1:c.2215A>C	ENSP00000514561.1:p.Ser739Arg
ENST00000699753.1:c.*1792A>C	ENSP00000514562.1:n.*1792A>C
ENST00000699754.1:c.2173A>C	ENSP00000514563.1:p.Ser725Arg
ENST00000699755.1:c.*1770A>C	ENSP00000514564.1:n.*1770A>C
ENST00000699756.1:c.*1958A>C	ENSP00000514565.1:n.*1958A>C
ENST00000699757.1:c.*1628A>C	ENSP00000514566.1:n.*1628A>C
ENST00000699758.1:c.*1628A>C	ENSP00000514567.1:n.*1628A>C
ENST00000699759.1:n.3225A>C
ENST00000699760.1:c.2053A>C	ENSP00000514568.1:p.Ser685Arg
ENST00000699761.1:c.1966A>C	ENSP00000514569.1:p.Ser656Arg
ENST00000699762.1:c.1798A>C	ENSP00000514570.1:p.Ser600Arg
ENST00000699763.1:c.*1461A>C	ENSP00000514571.1:n.*1461A>C
ENST00000699764.1:c.*689A>C	ENSP00000514572.1:n.*689A>C
ENST00000699765.1:c.*1366A>C	ENSP00000514573.1:n.*1366A>C
ENST00000699766.1:c.2404A>C	ENSP00000514574.1:p.Ser802Arg
ENST00000699767.1:c.*12A>C	ENSP00000514575.1:n.*12A>C
ENST00000699768.1:c.2227A>C	ENSP00000514576.1:p.Ser743Arg
ENST00000699811.1:c.1966A>C	ENSP00000514614.1:p.Ser656Arg
ENST00000699813.1:n.2484A>C
ENST00000699814.1:c.1994A>C
ENST00000699815.1:c.*1902A>C	ENSP00000514616.1:n.*1902A>C
ENST00000699816.1:c.*1261A>C	ENSP00000514617.1:n.*1261A>C
ENST00000699817.1:c.*1965A>C	ENSP00000514618.1:n.*1965A>C
ENST00000699818.1:c.1966A>C	ENSP00000514619.1:p.Ser656Arg
ENST00000699819.1:c.*1528A>C	ENSP00000514620.1:n.*1528A>C
ENST00000699820.1:c.*309A>C	ENSP00000514621.1:n.*309A>C
ENST00000699821.1:c.1999A>C	ENSP00000514622.1:p.Ser667Arg
ENST00000699822.1:c.*1823A>C	ENSP00000514623.1:n.*1823A>C
ENST00000699823.1:c.1966A>C	ENSP00000514624.1:p.Ser656Arg
ENST00000699824.1:c.*1874A>C	ENSP00000514625.1:n.*1874A>C
ENST00000699825.1:c.1810A>C	ENSP00000514626.1:p.Ser604Arg
ENST00000699826.1:c.*1770A>C	ENSP00000514627.1:n.*1770A>C
ENST00000699827.1:c.2203A>C	ENSP00000514628.1:p.Ser735Arg
ENST00000699828.1:c.*1461A>C	ENSP00000514629.1:n.*1461A>C
ENST00000699833.1:n.4143A>C
ENST00000699837.1:c.1966A>C	ENSP00000514635.1:p.Ser656Arg
ENST00000699838.1:c.*2271A>C	ENSP00000514636.1:n.*2271A>C
ENST00000699839.1:c.2557A>C	ENSP00000514637.1:p.Ser853Arg
ENST00000699916.1:c.*1628A>C	ENSP00000514684.1:n.*1628A>C
ENST00000699917.1:c.*1820A>C	ENSP00000514685.1:n.*1820A>C
ENST00000699918.1:c.*1872A>C	ENSP00000514686.1:n.*1872A>C
ENST00000699919.1:c.*1958A>C	ENSP00000514687.1:n.*1958A>C
ENST00000699920.1:c.*2007A>C	ENSP00000514688.1:n.*2007A>C
ENST00000699928.1:c.*309A>C	ENSP00000514693.1:n.*309A>C
ENST00000699951.1:c.*1424A>C	ENSP00000514706.1:n.*1424A>C
ENST00000699952.1:c.804-4120A>C	ENSP00000514707.1:n.804-4120A>C
ENST00000265849.12:c.2371A>C MANE Select	ENSP00000265849.7:p.Ser791Arg
ENST00000642292.1:c.1966A>C	ENSP00000495524.1:p.Ser656Arg
ENST00000642456.1:c.1966A>C	ENSP00000493814.1:p.Ser656Arg
ENST00000643595.1:c.*1770A>C	ENSP00000494497.1:n.*1770A>C
ENST00000644110.1:c.2053A>C	ENSP00000496392.1:p.Ser685Arg
ENST00000265849.11:c.2371A>C	ENSP00000265849.7:p.Ser791Arg
ENST00000382321.5:c.1168A>C	ENSP00000371758.4:p.Ser390Arg
ENST00000441476.6:c.2053A>C	ENSP00000392843.2:p.Ser685Arg
NM_000535.5:c.2371A>C , LRG_161t1:c.2371A>C	NP_000526.1:p.Ser791Arg
NR_003085.2:n.2453A>C
XM_006715742.2:c.2365A>C	XP_006715805.1:p.Ser789Arg
XM_006715744.2:c.1438A>C	XP_006715807.1:p.Ser480Arg
XM_011515427.1:c.2416A>C	XP_011513729.1:p.Ser806Arg
XM_011515428.1:c.2260A>C	XP_011513730.1:p.Ser754Arg
XM_011515429.1:c.2053A>C	XP_011513731.1:p.Ser685Arg
XM_011515430.1:c.2053A>C	XP_011513732.1:p.Ser685Arg
NM_000535.6:c.2371A>C	NP_000526.2:p.Ser791Arg
NM_001322003.1:c.1966A>C	NP_001308932.1:p.Ser656Arg
NM_001322004.1:c.1966A>C	NP_001308933.1:p.Ser656Arg
NM_001322005.1:c.1966A>C	NP_001308934.1:p.Ser656Arg
NM_001322006.1:c.2215A>C	NP_001308935.1:p.Ser739Arg
NM_001322007.1:c.2053A>C	NP_001308936.1:p.Ser685Arg
NM_001322008.1:c.2053A>C	NP_001308937.1:p.Ser685Arg
NM_001322009.1:c.1999A>C	NP_001308938.1:p.Ser667Arg
NM_001322010.1:c.1810A>C	NP_001308939.1:p.Ser604Arg
NM_001322011.1:c.1438A>C	NP_001308940.1:p.Ser480Arg
NM_001322012.1:c.1438A>C	NP_001308941.1:p.Ser480Arg
NM_001322013.1:c.1798A>C	NP_001308942.1:p.Ser600Arg
NM_001322014.1:c.2404A>C	NP_001308943.1:p.Ser802Arg
NM_001322015.1:c.2062A>C	NP_001308944.1:p.Ser688Arg
NR_136154.1:n.2415A>C
XM_006715744.4:c.1438A>C	XP_006715807.1:p.Ser480Arg
XM_017012342.2:c.1438A>C	XP_016867831.1:p.Ser480Arg
XM_024446800.1:c.1810A>C	XP_024302568.1:p.Ser604Arg
NM_000535.7:c.2371A>C MANE Select	NP_000526.2:p.Ser791Arg
NM_001322003.2:c.1966A>C	NP_001308932.1:p.Ser656Arg
NM_001322004.2:c.1966A>C	NP_001308933.1:p.Ser656Arg
NM_001322005.2:c.1966A>C	NP_001308934.1:p.Ser656Arg
NM_001322006.2:c.2215A>C	NP_001308935.1:p.Ser739Arg
NM_001322008.2:c.2053A>C	NP_001308937.1:p.Ser685Arg
NM_001322009.2:c.1999A>C	NP_001308938.1:p.Ser667Arg
NM_001322010.2:c.1810A>C	NP_001308939.1:p.Ser604Arg
NM_001322011.2:c.1438A>C	NP_001308940.1:p.Ser480Arg
NM_001322012.2:c.1438A>C	NP_001308941.1:p.Ser480Arg
NM_001322013.2:c.1798A>C	NP_001308942.1:p.Ser600Arg
NM_001322014.2:c.2404A>C	NP_001308943.1:p.Ser802Arg
NM_001322015.2:c.2062A>C	NP_001308944.1:p.Ser688Arg
NM_001322007.2:c.2053A>C	NP_001308936.1:p.Ser685Arg