Canonical Allele Identifier: CA366735757

Gene: PMS2

Linked Data

• MyVariant Identifiers: chr7:g.6017284G>T (hg19) ; chr7:g.5977653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977653G>T , CM000669.2:g.5977653G>T	GRCh38
NC_000007.13:g.6017284G>T , CM000669.1:g.6017284G>T	GRCh37
NC_000007.12:g.5983810G>T	NCBI36
NG_008466.1:g.36454C>A , LRG_161:g.36454C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1776C>A	ENSP00000514615.2:n.*1776C>A
ENST00000699840.2:c.2377C>A	ENSP00000514638.2:p.Pro793Thr
ENST00000699930.2:c.2272C>A	ENSP00000514695.2:p.Pro758Thr
ENST00000406569.8:c.1740C>A	ENSP00000514464.1:n.1740C>A
ENST00000644110.2:c.*1974C>A	ENSP00000496392.2:n.*1974C>A
ENST00000699752.1:c.2224C>A	ENSP00000514561.1:p.Pro742Thr
ENST00000699753.1:c.*1801C>A	ENSP00000514562.1:n.*1801C>A
ENST00000699754.1:c.2182C>A	ENSP00000514563.1:p.Pro728Thr
ENST00000699755.1:c.*1779C>A	ENSP00000514564.1:n.*1779C>A
ENST00000699756.1:c.*1967C>A	ENSP00000514565.1:n.*1967C>A
ENST00000699757.1:c.*1637C>A	ENSP00000514566.1:n.*1637C>A
ENST00000699758.1:c.*1637C>A	ENSP00000514567.1:n.*1637C>A
ENST00000699759.1:n.3234C>A
ENST00000699760.1:c.2062C>A	ENSP00000514568.1:p.Pro688Thr
ENST00000699761.1:c.1975C>A	ENSP00000514569.1:p.Pro659Thr
ENST00000699762.1:c.1807C>A	ENSP00000514570.1:p.Pro603Thr
ENST00000699763.1:c.*1470C>A	ENSP00000514571.1:n.*1470C>A
ENST00000699764.1:c.*698C>A	ENSP00000514572.1:n.*698C>A
ENST00000699765.1:c.*1375C>A	ENSP00000514573.1:n.*1375C>A
ENST00000699766.1:c.2413C>A	ENSP00000514574.1:p.Pro805Thr
ENST00000699767.1:c.*21C>A	ENSP00000514575.1:n.*21C>A
ENST00000699768.1:c.2236C>A	ENSP00000514576.1:p.Pro746Thr
ENST00000699811.1:c.1975C>A	ENSP00000514614.1:p.Pro659Thr
ENST00000699813.1:n.2493C>A
ENST00000699814.1:c.2003C>A
ENST00000699815.1:c.*1911C>A	ENSP00000514616.1:n.*1911C>A
ENST00000699816.1:c.*1270C>A	ENSP00000514617.1:n.*1270C>A
ENST00000699817.1:c.*1974C>A	ENSP00000514618.1:n.*1974C>A
ENST00000699818.1:c.1975C>A	ENSP00000514619.1:p.Pro659Thr
ENST00000699819.1:c.*1537C>A	ENSP00000514620.1:n.*1537C>A
ENST00000699820.1:c.*318C>A	ENSP00000514621.1:n.*318C>A
ENST00000699821.1:c.2008C>A	ENSP00000514622.1:p.Pro670Thr
ENST00000699822.1:c.*1832C>A	ENSP00000514623.1:n.*1832C>A
ENST00000699823.1:c.1975C>A	ENSP00000514624.1:p.Pro659Thr
ENST00000699824.1:c.*1883C>A	ENSP00000514625.1:n.*1883C>A
ENST00000699825.1:c.1819C>A	ENSP00000514626.1:p.Pro607Thr
ENST00000699826.1:c.*1779C>A	ENSP00000514627.1:n.*1779C>A
ENST00000699827.1:c.2212C>A	ENSP00000514628.1:p.Pro738Thr
ENST00000699828.1:c.*1470C>A	ENSP00000514629.1:n.*1470C>A
ENST00000699833.1:n.4152C>A
ENST00000699837.1:c.1975C>A	ENSP00000514635.1:p.Pro659Thr
ENST00000699838.1:c.*2280C>A	ENSP00000514636.1:n.*2280C>A
ENST00000699839.1:c.2566C>A	ENSP00000514637.1:p.Pro856Thr
ENST00000699916.1:c.*1637C>A	ENSP00000514684.1:n.*1637C>A
ENST00000699917.1:c.*1829C>A	ENSP00000514685.1:n.*1829C>A
ENST00000699918.1:c.*1881C>A	ENSP00000514686.1:n.*1881C>A
ENST00000699919.1:c.*1967C>A	ENSP00000514687.1:n.*1967C>A
ENST00000699920.1:c.*2016C>A	ENSP00000514688.1:n.*2016C>A
ENST00000699928.1:c.*318C>A	ENSP00000514693.1:n.*318C>A
ENST00000699951.1:c.*1433C>A	ENSP00000514706.1:n.*1433C>A
ENST00000699952.1:c.804-4111C>A	ENSP00000514707.1:n.804-4111C>A
ENST00000265849.12:c.2380C>A MANE Select	ENSP00000265849.7:p.Pro794Thr
ENST00000642292.1:c.1975C>A	ENSP00000495524.1:p.Pro659Thr
ENST00000642456.1:c.1975C>A	ENSP00000493814.1:p.Pro659Thr
ENST00000643595.1:c.*1779C>A	ENSP00000494497.1:n.*1779C>A
ENST00000644110.1:c.2062C>A	ENSP00000496392.1:p.Pro688Thr
ENST00000265849.11:c.2380C>A	ENSP00000265849.7:p.Pro794Thr
ENST00000382321.5:c.1177C>A	ENSP00000371758.4:p.Pro393Thr
ENST00000441476.6:c.2062C>A	ENSP00000392843.2:p.Pro688Thr
NM_000535.5:c.2380C>A , LRG_161t1:c.2380C>A	NP_000526.1:p.Pro794Thr
NR_003085.2:n.2462C>A
XM_006715742.2:c.2374C>A	XP_006715805.1:p.Pro792Thr
XM_006715744.2:c.1447C>A	XP_006715807.1:p.Pro483Thr
XM_011515427.1:c.2425C>A	XP_011513729.1:p.Pro809Thr
XM_011515428.1:c.2269C>A	XP_011513730.1:p.Pro757Thr
XM_011515429.1:c.2062C>A	XP_011513731.1:p.Pro688Thr
XM_011515430.1:c.2062C>A	XP_011513732.1:p.Pro688Thr
NM_000535.6:c.2380C>A	NP_000526.2:p.Pro794Thr
NM_001322003.1:c.1975C>A	NP_001308932.1:p.Pro659Thr
NM_001322004.1:c.1975C>A	NP_001308933.1:p.Pro659Thr
NM_001322005.1:c.1975C>A	NP_001308934.1:p.Pro659Thr
NM_001322006.1:c.2224C>A	NP_001308935.1:p.Pro742Thr
NM_001322007.1:c.2062C>A	NP_001308936.1:p.Pro688Thr
NM_001322008.1:c.2062C>A	NP_001308937.1:p.Pro688Thr
NM_001322009.1:c.2008C>A	NP_001308938.1:p.Pro670Thr
NM_001322010.1:c.1819C>A	NP_001308939.1:p.Pro607Thr
NM_001322011.1:c.1447C>A	NP_001308940.1:p.Pro483Thr
NM_001322012.1:c.1447C>A	NP_001308941.1:p.Pro483Thr
NM_001322013.1:c.1807C>A	NP_001308942.1:p.Pro603Thr
NM_001322014.1:c.2413C>A	NP_001308943.1:p.Pro805Thr
NM_001322015.1:c.2071C>A	NP_001308944.1:p.Pro691Thr
NR_136154.1:n.2424C>A
XM_006715744.4:c.1447C>A	XP_006715807.1:p.Pro483Thr
XM_017012342.2:c.1447C>A	XP_016867831.1:p.Pro483Thr
XM_024446800.1:c.1819C>A	XP_024302568.1:p.Pro607Thr
NM_000535.7:c.2380C>A MANE Select	NP_000526.2:p.Pro794Thr
NM_001322003.2:c.1975C>A	NP_001308932.1:p.Pro659Thr
NM_001322004.2:c.1975C>A	NP_001308933.1:p.Pro659Thr
NM_001322005.2:c.1975C>A	NP_001308934.1:p.Pro659Thr
NM_001322006.2:c.2224C>A	NP_001308935.1:p.Pro742Thr
NM_001322008.2:c.2062C>A	NP_001308937.1:p.Pro688Thr
NM_001322009.2:c.2008C>A	NP_001308938.1:p.Pro670Thr
NM_001322010.2:c.1819C>A	NP_001308939.1:p.Pro607Thr
NM_001322011.2:c.1447C>A	NP_001308940.1:p.Pro483Thr
NM_001322012.2:c.1447C>A	NP_001308941.1:p.Pro483Thr
NM_001322013.2:c.1807C>A	NP_001308942.1:p.Pro603Thr
NM_001322014.2:c.2413C>A	NP_001308943.1:p.Pro805Thr
NM_001322015.2:c.2071C>A	NP_001308944.1:p.Pro691Thr
NM_001322007.2:c.2062C>A	NP_001308936.1:p.Pro688Thr