Canonical Allele Identifier: CA366735943

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2674213
• ClinVar RCV Id: RCV003452409
• dbSNP Id: rs587780053
• MyVariant Identifiers: chr7:g.6017329C>A (hg19) ; chr7:g.5977698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977698C>A , CM000669.2:g.5977698C>A	GRCh38
NC_000007.13:g.6017329C>A , CM000669.1:g.6017329C>A	GRCh37
NC_000007.12:g.5983855C>A	NCBI36
NG_008466.1:g.36409G>T , LRG_161:g.36409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1731G>T	ENSP00000514615.2:n.*1731G>T
ENST00000699840.2:c.2332G>T	ENSP00000514638.2:p.Gly778Ter
ENST00000699930.2:c.2227G>T	ENSP00000514695.2:p.Gly743Ter
ENST00000406569.8:c.1695G>T	ENSP00000514464.1:p.Ser565=
ENST00000644110.2:c.*1929G>T	ENSP00000496392.2:n.*1929G>T
ENST00000699752.1:c.2179G>T	ENSP00000514561.1:p.Gly727Ter
ENST00000699753.1:c.*1756G>T	ENSP00000514562.1:n.*1756G>T
ENST00000699754.1:c.2137G>T	ENSP00000514563.1:p.Gly713Ter
ENST00000699755.1:c.*1734G>T	ENSP00000514564.1:n.*1734G>T
ENST00000699756.1:c.*1922G>T	ENSP00000514565.1:n.*1922G>T
ENST00000699757.1:c.*1592G>T	ENSP00000514566.1:n.*1592G>T
ENST00000699758.1:c.*1592G>T	ENSP00000514567.1:n.*1592G>T
ENST00000699759.1:n.3189G>T
ENST00000699760.1:c.2017G>T	ENSP00000514568.1:p.Gly673Ter
ENST00000699761.1:c.1930G>T	ENSP00000514569.1:p.Gly644Ter
ENST00000699762.1:c.1762G>T	ENSP00000514570.1:p.Gly588Ter
ENST00000699763.1:c.*1425G>T	ENSP00000514571.1:n.*1425G>T
ENST00000699764.1:c.*653G>T	ENSP00000514572.1:n.*653G>T
ENST00000699765.1:c.*1330G>T	ENSP00000514573.1:n.*1330G>T
ENST00000699766.1:c.2368G>T	ENSP00000514574.1:p.Gly790Ter
ENST00000699767.1:c.2292G>T	ENSP00000514575.1:p.Ser764=
ENST00000699768.1:c.2191G>T	ENSP00000514576.1:p.Gly731Ter
ENST00000699811.1:c.1930G>T	ENSP00000514614.1:p.Gly644Ter
ENST00000699813.1:n.2448G>T
ENST00000699814.1:c.1958G>T
ENST00000699815.1:c.*1866G>T	ENSP00000514616.1:n.*1866G>T
ENST00000699816.1:c.*1225G>T	ENSP00000514617.1:n.*1225G>T
ENST00000699817.1:c.*1929G>T	ENSP00000514618.1:n.*1929G>T
ENST00000699818.1:c.1930G>T	ENSP00000514619.1:p.Gly644Ter
ENST00000699819.1:c.*1492G>T	ENSP00000514620.1:n.*1492G>T
ENST00000699820.1:c.*273G>T	ENSP00000514621.1:n.*273G>T
ENST00000699821.1:c.1963G>T	ENSP00000514622.1:p.Gly655Ter
ENST00000699822.1:c.*1787G>T	ENSP00000514623.1:n.*1787G>T
ENST00000699823.1:c.1930G>T	ENSP00000514624.1:p.Gly644Ter
ENST00000699824.1:c.*1838G>T	ENSP00000514625.1:n.*1838G>T
ENST00000699825.1:c.1774G>T	ENSP00000514626.1:p.Gly592Ter
ENST00000699826.1:c.*1734G>T	ENSP00000514627.1:n.*1734G>T
ENST00000699827.1:c.2167G>T	ENSP00000514628.1:p.Gly723Ter
ENST00000699828.1:c.*1425G>T	ENSP00000514629.1:n.*1425G>T
ENST00000699833.1:n.4107G>T
ENST00000699837.1:c.1930G>T	ENSP00000514635.1:p.Gly644Ter
ENST00000699838.1:c.*2235G>T	ENSP00000514636.1:n.*2235G>T
ENST00000699839.1:c.2521G>T	ENSP00000514637.1:p.Gly841Ter
ENST00000699916.1:c.*1592G>T	ENSP00000514684.1:n.*1592G>T
ENST00000699917.1:c.*1784G>T	ENSP00000514685.1:n.*1784G>T
ENST00000699918.1:c.*1836G>T	ENSP00000514686.1:n.*1836G>T
ENST00000699919.1:c.*1922G>T	ENSP00000514687.1:n.*1922G>T
ENST00000699920.1:c.*1971G>T	ENSP00000514688.1:n.*1971G>T
ENST00000699928.1:c.*273G>T	ENSP00000514693.1:n.*273G>T
ENST00000699951.1:c.*1388G>T	ENSP00000514706.1:n.*1388G>T
ENST00000699952.1:c.804-4156G>T	ENSP00000514707.1:n.804-4156G>T
ENST00000265849.12:c.2335G>T MANE Select	ENSP00000265849.7:p.Gly779Ter
ENST00000642292.1:c.1930G>T	ENSP00000495524.1:p.Gly644Ter
ENST00000642456.1:c.1930G>T	ENSP00000493814.1:p.Gly644Ter
ENST00000643595.1:c.*1734G>T	ENSP00000494497.1:n.*1734G>T
ENST00000644110.1:c.2017G>T	ENSP00000496392.1:p.Gly673Ter
ENST00000265849.11:c.2335G>T	ENSP00000265849.7:p.Gly779Ter
ENST00000382321.5:c.1132G>T	ENSP00000371758.4:p.Gly378Ter
ENST00000406569.7:n.1695G>T
ENST00000441476.6:c.2017G>T	ENSP00000392843.2:p.Gly673Ter
NM_000535.5:c.2335G>T , LRG_161t1:c.2335G>T	NP_000526.1:p.Gly779Ter
NR_003085.2:n.2417G>T
XM_006715742.2:c.2329G>T	XP_006715805.1:p.Gly777Ter
XM_006715744.2:c.1402G>T	XP_006715807.1:p.Gly468Ter
XM_011515427.1:c.2380G>T	XP_011513729.1:p.Gly794Ter
XM_011515428.1:c.2224G>T	XP_011513730.1:p.Gly742Ter
XM_011515429.1:c.2017G>T	XP_011513731.1:p.Gly673Ter
XM_011515430.1:c.2017G>T	XP_011513732.1:p.Gly673Ter
NM_000535.6:c.2335G>T	NP_000526.2:p.Gly779Ter
NM_001322003.1:c.1930G>T	NP_001308932.1:p.Gly644Ter
NM_001322004.1:c.1930G>T	NP_001308933.1:p.Gly644Ter
NM_001322005.1:c.1930G>T	NP_001308934.1:p.Gly644Ter
NM_001322006.1:c.2179G>T	NP_001308935.1:p.Gly727Ter
NM_001322007.1:c.2017G>T	NP_001308936.1:p.Gly673Ter
NM_001322008.1:c.2017G>T	NP_001308937.1:p.Gly673Ter
NM_001322009.1:c.1963G>T	NP_001308938.1:p.Gly655Ter
NM_001322010.1:c.1774G>T	NP_001308939.1:p.Gly592Ter
NM_001322011.1:c.1402G>T	NP_001308940.1:p.Gly468Ter
NM_001322012.1:c.1402G>T	NP_001308941.1:p.Gly468Ter
NM_001322013.1:c.1762G>T	NP_001308942.1:p.Gly588Ter
NM_001322014.1:c.2368G>T	NP_001308943.1:p.Gly790Ter
NM_001322015.1:c.2026G>T	NP_001308944.1:p.Gly676Ter
NR_136154.1:n.2379G>T
XM_006715744.4:c.1402G>T	XP_006715807.1:p.Gly468Ter
XM_017012342.2:c.1402G>T	XP_016867831.1:p.Gly468Ter
XM_024446800.1:c.1774G>T	XP_024302568.1:p.Gly592Ter
NM_000535.7:c.2335G>T MANE Select	NP_000526.2:p.Gly779Ter
NM_001322003.2:c.1930G>T	NP_001308932.1:p.Gly644Ter
NM_001322004.2:c.1930G>T	NP_001308933.1:p.Gly644Ter
NM_001322005.2:c.1930G>T	NP_001308934.1:p.Gly644Ter
NM_001322006.2:c.2179G>T	NP_001308935.1:p.Gly727Ter
NM_001322008.2:c.2017G>T	NP_001308937.1:p.Gly673Ter
NM_001322009.2:c.1963G>T	NP_001308938.1:p.Gly655Ter
NM_001322010.2:c.1774G>T	NP_001308939.1:p.Gly592Ter
NM_001322011.2:c.1402G>T	NP_001308940.1:p.Gly468Ter
NM_001322012.2:c.1402G>T	NP_001308941.1:p.Gly468Ter
NM_001322013.2:c.1762G>T	NP_001308942.1:p.Gly588Ter
NM_001322014.2:c.2368G>T	NP_001308943.1:p.Gly790Ter
NM_001322015.2:c.2026G>T	NP_001308944.1:p.Gly676Ter
NM_001322007.2:c.2017G>T	NP_001308936.1:p.Gly673Ter