Canonical Allele Identifier: CA048378

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973513G>A , CM000669.2:g.5973513G>A	GRCh38
NC_000007.13:g.6013144G>A , CM000669.1:g.6013144G>A	GRCh37
NC_000007.12:g.5979670G>A	NCBI36
NG_008466.1:g.40594C>T , LRG_161:g.40594C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000535.7:c.2475C>T MANE Select	NP_000526.2:p.Ser825=
ENST00000265849.12:c.2475C>T MANE Select	ENSP00000265849.7:p.Ser825=
NM_000535.5:c.2475C>T , LRG_161t1:c.2475C>T	NP_000526.1:p.Ser825=
NM_000535.6:c.2475C>T	NP_000526.2:p.Ser825=
NM_001322003.1:c.2070C>T	NP_001308932.1:p.Ser690=
NM_001322003.2:c.2070C>T	NP_001308932.1:p.Ser690=
NM_001322004.1:c.2070C>T	NP_001308933.1:p.Ser690=
NM_001322004.2:c.2070C>T	NP_001308933.1:p.Ser690=
NM_001322005.1:c.2070C>T	NP_001308934.1:p.Ser690=
NM_001322005.2:c.2070C>T	NP_001308934.1:p.Ser690=
NM_001322006.1:c.2319C>T	NP_001308935.1:p.Ser773=
NM_001322006.2:c.2319C>T	NP_001308935.1:p.Ser773=
NM_001322007.1:c.2157C>T	NP_001308936.1:p.Ser719=
NM_001322007.2:c.2157C>T	NP_001308936.1:p.Ser719=
NM_001322008.1:c.2157C>T	NP_001308937.1:p.Ser719=
NM_001322008.2:c.2157C>T	NP_001308937.1:p.Ser719=
NM_001322009.1:c.2103C>T	NP_001308938.1:p.Ser701=
NM_001322009.2:c.2103C>T	NP_001308938.1:p.Ser701=
NM_001322010.1:c.1914C>T	NP_001308939.1:p.Ser638=
NM_001322010.2:c.1914C>T	NP_001308939.1:p.Ser638=
NM_001322011.1:c.1542C>T	NP_001308940.1:p.Ser514=
NM_001322011.2:c.1542C>T	NP_001308940.1:p.Ser514=
NM_001322012.1:c.1542C>T	NP_001308941.1:p.Ser514=
NM_001322012.2:c.1542C>T	NP_001308941.1:p.Ser514=
NM_001322013.1:c.1902C>T	NP_001308942.1:p.Ser634=
NM_001322013.2:c.1902C>T	NP_001308942.1:p.Ser634=
NM_001322014.1:c.2508C>T	NP_001308943.1:p.Ser836=
NM_001322014.2:c.2508C>T	NP_001308943.1:p.Ser836=
NM_001322015.1:c.2166C>T	NP_001308944.1:p.Ser722=
NM_001322015.2:c.2166C>T	NP_001308944.1:p.Ser722=
NR_003085.2:n.2557C>T
NR_136154.1:n.2519C>T
ENST00000265849.11:c.2475C>T	ENSP00000265849.7:p.Ser825=
ENST00000382321.5:c.1272C>T	ENSP00000371758.4:p.Ser424=
ENST00000406569.8:c.1835C>T	ENSP00000514464.1:n.1835C>T
ENST00000441476.6:c.2157C>T	ENSP00000392843.2:p.Ser719=
ENST00000642292.1:c.2070C>T	ENSP00000495524.1:p.Ser690=
ENST00000642456.1:c.2070C>T	ENSP00000493814.1:p.Ser690=
ENST00000643595.1:c.*1874C>T	ENSP00000494497.1:n.*1874C>T
ENST00000644110.1:c.2157C>T	ENSP00000496392.1:p.Ser719=
ENST00000644110.2:c.*2069C>T	ENSP00000496392.2:n.*2069C>T
ENST00000699752.1:c.2319C>T	ENSP00000514561.1:p.Ser773=
ENST00000699753.1:c.*1896C>T	ENSP00000514562.1:n.*1896C>T
ENST00000699754.1:c.2277C>T	ENSP00000514563.1:p.Ser759=
ENST00000699755.1:c.*1874C>T	ENSP00000514564.1:n.*1874C>T
ENST00000699756.1:c.*2062C>T	ENSP00000514565.1:n.*2062C>T
ENST00000699757.1:c.*1732C>T	ENSP00000514566.1:n.*1732C>T
ENST00000699758.1:c.*1732C>T	ENSP00000514567.1:n.*1732C>T
ENST00000699759.1:n.3329C>T
ENST00000699760.1:c.2157C>T	ENSP00000514568.1:p.Ser719=
ENST00000699761.1:c.2070C>T	ENSP00000514569.1:p.Ser690=
ENST00000699762.1:c.1902C>T	ENSP00000514570.1:p.Ser634=
ENST00000699763.1:c.*1565C>T	ENSP00000514571.1:n.*1565C>T
ENST00000699764.1:c.*793C>T	ENSP00000514572.1:n.*793C>T
ENST00000699765.1:c.*1470C>T	ENSP00000514573.1:n.*1470C>T
ENST00000699766.1:c.2508C>T	ENSP00000514574.1:p.Ser836=
ENST00000699767.1:c.*116C>T	ENSP00000514575.1:n.*116C>T
ENST00000699768.1:c.2331C>T	ENSP00000514576.1:p.Ser777=
ENST00000699811.1:c.2070C>T	ENSP00000514614.1:p.Ser690=
ENST00000699813.1:n.2588C>T
ENST00000699814.1:c.2098C>T
ENST00000699814.2:c.*1871C>T	ENSP00000514615.2:n.*1871C>T
ENST00000699815.1:c.*2006C>T	ENSP00000514616.1:n.*2006C>T
ENST00000699816.1:c.*1365C>T	ENSP00000514617.1:n.*1365C>T
ENST00000699817.1:c.*2069C>T	ENSP00000514618.1:n.*2069C>T
ENST00000699818.1:c.2070C>T	ENSP00000514619.1:p.Ser690=
ENST00000699819.1:c.*1632C>T	ENSP00000514620.1:n.*1632C>T
ENST00000699820.1:c.*413C>T	ENSP00000514621.1:n.*413C>T
ENST00000699821.1:c.2103C>T	ENSP00000514622.1:p.Ser701=
ENST00000699822.1:c.*1927C>T	ENSP00000514623.1:n.*1927C>T
ENST00000699823.1:c.2070C>T	ENSP00000514624.1:p.Ser690=
ENST00000699824.1:c.*1978C>T	ENSP00000514625.1:n.*1978C>T
ENST00000699825.1:c.1914C>T	ENSP00000514626.1:p.Ser638=
ENST00000699826.1:c.*1874C>T	ENSP00000514627.1:n.*1874C>T
ENST00000699827.1:c.2307C>T	ENSP00000514628.1:p.Ser769=
ENST00000699828.1:c.*1565C>T	ENSP00000514629.1:n.*1565C>T
ENST00000699833.1:n.4247C>T
ENST00000699837.1:c.2070C>T	ENSP00000514635.1:p.Ser690=
ENST00000699838.1:c.*2375C>T	ENSP00000514636.1:n.*2375C>T
ENST00000699839.1:c.2661C>T	ENSP00000514637.1:p.Ser887=
ENST00000699840.2:c.2472C>T	ENSP00000514638.2:p.Ser824=
ENST00000699916.1:c.*1732C>T	ENSP00000514684.1:n.*1732C>T
ENST00000699917.1:c.*1924C>T	ENSP00000514685.1:n.*1924C>T
ENST00000699918.1:c.*1976C>T	ENSP00000514686.1:n.*1976C>T
ENST00000699919.1:c.*2062C>T	ENSP00000514687.1:n.*2062C>T
ENST00000699920.1:c.*2111C>T	ENSP00000514688.1:n.*2111C>T
ENST00000699928.1:c.*413C>T	ENSP00000514693.1:n.*413C>T
ENST00000699930.2:c.2367C>T	ENSP00000514695.2:p.Ser789=
ENST00000699951.1:c.*1528C>T	ENSP00000514706.1:n.*1528C>T
ENST00000699952.1:c.*29C>T	ENSP00000514707.1:n.*29C>T
XM_006715742.2:c.2469C>T	XP_006715805.1:p.Ser823=
XM_006715744.2:c.1542C>T	XP_006715807.1:p.Ser514=
XM_006715744.4:c.1542C>T	XP_006715807.1:p.Ser514=
XM_011515427.1:c.2520C>T	XP_011513729.1:p.Ser840=
XM_011515428.1:c.2364C>T	XP_011513730.1:p.Ser788=
XM_011515429.1:c.2157C>T	XP_011513731.1:p.Ser719=
XM_011515430.1:c.2157C>T	XP_011513732.1:p.Ser719=
XM_017012342.2:c.1542C>T	XP_016867831.1:p.Ser514=
XM_024446800.1:c.1914C>T	XP_024302568.1:p.Ser638=