Canonical Allele Identifier: CA366735985

Gene: PMS2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977708G>C , CM000669.2:g.5977708G>C	GRCh38
NC_000007.13:g.6017339G>C , CM000669.1:g.6017339G>C	GRCh37
NC_000007.12:g.5983865G>C	NCBI36
NG_008466.1:g.36399C>G , LRG_161:g.36399C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1721C>G	ENSP00000514615.2:n.*1721C>G
ENST00000699840.2:c.2322C>G	ENSP00000514638.2:p.Asn774Lys
ENST00000699930.2:c.2217C>G	ENSP00000514695.2:p.Asn739Lys
ENST00000406569.8:c.1685C>G	ENSP00000514464.1:p.Thr562Ser
ENST00000644110.2:c.*1919C>G	ENSP00000496392.2:n.*1919C>G
ENST00000699752.1:c.2169C>G	ENSP00000514561.1:p.Asn723Lys
ENST00000699753.1:c.*1746C>G	ENSP00000514562.1:n.*1746C>G
ENST00000699754.1:c.2127C>G	ENSP00000514563.1:p.Asn709Lys
ENST00000699755.1:c.*1724C>G	ENSP00000514564.1:n.*1724C>G
ENST00000699756.1:c.*1912C>G	ENSP00000514565.1:n.*1912C>G
ENST00000699757.1:c.*1582C>G	ENSP00000514566.1:n.*1582C>G
ENST00000699758.1:c.*1582C>G	ENSP00000514567.1:n.*1582C>G
ENST00000699759.1:n.3179C>G
ENST00000699760.1:c.2007C>G	ENSP00000514568.1:p.Asn669Lys
ENST00000699761.1:c.1920C>G	ENSP00000514569.1:p.Asn640Lys
ENST00000699762.1:c.1752C>G	ENSP00000514570.1:p.Asn584Lys
ENST00000699763.1:c.*1415C>G	ENSP00000514571.1:n.*1415C>G
ENST00000699764.1:c.*643C>G	ENSP00000514572.1:n.*643C>G
ENST00000699765.1:c.*1320C>G	ENSP00000514573.1:n.*1320C>G
ENST00000699766.1:c.2358C>G	ENSP00000514574.1:p.Asn786Lys
ENST00000699767.1:c.2282C>G	ENSP00000514575.1:p.Thr761Ser
ENST00000699768.1:c.2181C>G	ENSP00000514576.1:p.Asn727Lys
ENST00000699811.1:c.1920C>G	ENSP00000514614.1:p.Asn640Lys
ENST00000699813.1:n.2438C>G
ENST00000699814.1:c.1948C>G
ENST00000699815.1:c.*1856C>G	ENSP00000514616.1:n.*1856C>G
ENST00000699816.1:c.*1215C>G	ENSP00000514617.1:n.*1215C>G
ENST00000699817.1:c.*1919C>G	ENSP00000514618.1:n.*1919C>G
ENST00000699818.1:c.1920C>G	ENSP00000514619.1:p.Asn640Lys
ENST00000699819.1:c.*1482C>G	ENSP00000514620.1:n.*1482C>G
ENST00000699820.1:c.*263C>G	ENSP00000514621.1:n.*263C>G
ENST00000699821.1:c.1953C>G	ENSP00000514622.1:p.Asn651Lys
ENST00000699822.1:c.*1777C>G	ENSP00000514623.1:n.*1777C>G
ENST00000699823.1:c.1920C>G	ENSP00000514624.1:p.Asn640Lys
ENST00000699824.1:c.*1828C>G	ENSP00000514625.1:n.*1828C>G
ENST00000699825.1:c.1764C>G	ENSP00000514626.1:p.Asn588Lys
ENST00000699826.1:c.*1724C>G	ENSP00000514627.1:n.*1724C>G
ENST00000699827.1:c.2157C>G	ENSP00000514628.1:p.Asn719Lys
ENST00000699828.1:c.*1415C>G	ENSP00000514629.1:n.*1415C>G
ENST00000699833.1:n.4097C>G
ENST00000699837.1:c.1920C>G	ENSP00000514635.1:p.Asn640Lys
ENST00000699838.1:c.*2225C>G	ENSP00000514636.1:n.*2225C>G
ENST00000699839.1:c.2511C>G	ENSP00000514637.1:p.Asn837Lys
ENST00000699916.1:c.*1582C>G	ENSP00000514684.1:n.*1582C>G
ENST00000699917.1:c.*1774C>G	ENSP00000514685.1:n.*1774C>G
ENST00000699918.1:c.*1826C>G	ENSP00000514686.1:n.*1826C>G
ENST00000699919.1:c.*1912C>G	ENSP00000514687.1:n.*1912C>G
ENST00000699920.1:c.*1961C>G	ENSP00000514688.1:n.*1961C>G
ENST00000699928.1:c.*263C>G	ENSP00000514693.1:n.*263C>G
ENST00000699951.1:c.*1378C>G	ENSP00000514706.1:n.*1378C>G
ENST00000699952.1:c.804-4166C>G	ENSP00000514707.1:n.804-4166C>G
ENST00000265849.12:c.2325C>G MANE Select	ENSP00000265849.7:p.Asn775Lys
ENST00000642292.1:c.1920C>G	ENSP00000495524.1:p.Asn640Lys
ENST00000642456.1:c.1920C>G	ENSP00000493814.1:p.Asn640Lys
ENST00000643595.1:c.*1724C>G	ENSP00000494497.1:n.*1724C>G
ENST00000644110.1:c.2007C>G	ENSP00000496392.1:p.Asn669Lys
ENST00000265849.11:c.2325C>G	ENSP00000265849.7:p.Asn775Lys
ENST00000382321.5:c.1122C>G	ENSP00000371758.4:p.Asn374Lys
ENST00000406569.7:n.1685C>G
ENST00000441476.6:c.2007C>G	ENSP00000392843.2:p.Asn669Lys
NM_000535.5:c.2325C>G , LRG_161t1:c.2325C>G	NP_000526.1:p.Asn775Lys
NR_003085.2:n.2407C>G
XM_006715742.2:c.2319C>G	XP_006715805.1:p.Asn773Lys
XM_006715744.2:c.1392C>G	XP_006715807.1:p.Asn464Lys
XM_011515427.1:c.2370C>G	XP_011513729.1:p.Asn790Lys
XM_011515428.1:c.2214C>G	XP_011513730.1:p.Asn738Lys
XM_011515429.1:c.2007C>G	XP_011513731.1:p.Asn669Lys
XM_011515430.1:c.2007C>G	XP_011513732.1:p.Asn669Lys
NM_000535.6:c.2325C>G	NP_000526.2:p.Asn775Lys
NM_001322003.1:c.1920C>G	NP_001308932.1:p.Asn640Lys
NM_001322004.1:c.1920C>G	NP_001308933.1:p.Asn640Lys
NM_001322005.1:c.1920C>G	NP_001308934.1:p.Asn640Lys
NM_001322006.1:c.2169C>G	NP_001308935.1:p.Asn723Lys
NM_001322007.1:c.2007C>G	NP_001308936.1:p.Asn669Lys
NM_001322008.1:c.2007C>G	NP_001308937.1:p.Asn669Lys
NM_001322009.1:c.1953C>G	NP_001308938.1:p.Asn651Lys
NM_001322010.1:c.1764C>G	NP_001308939.1:p.Asn588Lys
NM_001322011.1:c.1392C>G	NP_001308940.1:p.Asn464Lys
NM_001322012.1:c.1392C>G	NP_001308941.1:p.Asn464Lys
NM_001322013.1:c.1752C>G	NP_001308942.1:p.Asn584Lys
NM_001322014.1:c.2358C>G	NP_001308943.1:p.Asn786Lys
NM_001322015.1:c.2016C>G	NP_001308944.1:p.Asn672Lys
NR_136154.1:n.2369C>G
XM_006715744.4:c.1392C>G	XP_006715807.1:p.Asn464Lys
XM_017012342.2:c.1392C>G	XP_016867831.1:p.Asn464Lys
XM_024446800.1:c.1764C>G	XP_024302568.1:p.Asn588Lys
NM_000535.7:c.2325C>G MANE Select	NP_000526.2:p.Asn775Lys
NM_001322003.2:c.1920C>G	NP_001308932.1:p.Asn640Lys
NM_001322004.2:c.1920C>G	NP_001308933.1:p.Asn640Lys
NM_001322005.2:c.1920C>G	NP_001308934.1:p.Asn640Lys
NM_001322006.2:c.2169C>G	NP_001308935.1:p.Asn723Lys
NM_001322008.2:c.2007C>G	NP_001308937.1:p.Asn669Lys
NM_001322009.2:c.1953C>G	NP_001308938.1:p.Asn651Lys
NM_001322010.2:c.1764C>G	NP_001308939.1:p.Asn588Lys
NM_001322011.2:c.1392C>G	NP_001308940.1:p.Asn464Lys
NM_001322012.2:c.1392C>G	NP_001308941.1:p.Asn464Lys
NM_001322013.2:c.1752C>G	NP_001308942.1:p.Asn584Lys
NM_001322014.2:c.2358C>G	NP_001308943.1:p.Asn786Lys
NM_001322015.2:c.2016C>G	NP_001308944.1:p.Asn672Lys
NM_001322007.2:c.2007C>G	NP_001308936.1:p.Asn669Lys