Canonical Allele Identifier: CA366738089

Gene: PMS2

Linked Data

• ClinVar Variation Id: 3231998
• ClinVar RCV Id: RCV004518713
• MyVariant Identifiers: chr7:g.6022572A>C (hg19) ; chr7:g.5982941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982941A>C , CM000669.2:g.5982941A>C	GRCh38
NC_000007.13:g.6022572A>C , CM000669.1:g.6022572A>C	GRCh37
NC_000007.12:g.5989098A>C	NCBI36
NG_008466.1:g.31166T>G , LRG_161:g.31166T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1453T>G	ENSP00000514615.2:n.*1453T>G
ENST00000699840.2:c.2054T>G	ENSP00000514638.2:p.Phe685Cys
ENST00000699930.2:c.1949T>G	ENSP00000514695.2:p.Phe650Cys
ENST00000406569.8:c.1678+4146T>G	ENSP00000514464.1:n.1678+4146T>G
ENST00000644110.2:c.*1651T>G	ENSP00000496392.2:n.*1651T>G
ENST00000699752.1:c.1901T>G	ENSP00000514561.1:p.Phe634Cys
ENST00000699753.1:c.*1478T>G	ENSP00000514562.1:n.*1478T>G
ENST00000699754.1:c.1859T>G	ENSP00000514563.1:p.Phe620Cys
ENST00000699755.1:c.*1456T>G	ENSP00000514564.1:n.*1456T>G
ENST00000699756.1:c.*1644T>G	ENSP00000514565.1:n.*1644T>G
ENST00000699757.1:c.*1314T>G	ENSP00000514566.1:n.*1314T>G
ENST00000699758.1:c.*1314T>G	ENSP00000514567.1:n.*1314T>G
ENST00000699759.1:n.2911T>G
ENST00000699760.1:c.1739T>G	ENSP00000514568.1:p.Phe580Cys
ENST00000699761.1:c.1652T>G	ENSP00000514569.1:p.Phe551Cys
ENST00000699762.1:c.1484T>G	ENSP00000514570.1:p.Phe495Cys
ENST00000699763.1:c.*1147T>G	ENSP00000514571.1:n.*1147T>G
ENST00000699764.1:c.*375T>G	ENSP00000514572.1:n.*375T>G
ENST00000699765.1:c.*1153T>G	ENSP00000514573.1:n.*1153T>G
ENST00000699766.1:c.2057T>G	ENSP00000514574.1:p.Phe686Cys
ENST00000699767.1:c.2057T>G	ENSP00000514575.1:p.Phe686Cys
ENST00000699768.1:c.2057T>G	ENSP00000514576.1:p.Phe686Cys
ENST00000699811.1:c.1652T>G	ENSP00000514614.1:p.Phe551Cys
ENST00000699813.1:n.2170T>G
ENST00000699814.1:c.1680T>G
ENST00000699815.1:c.*1588T>G	ENSP00000514616.1:n.*1588T>G
ENST00000699816.1:c.*947T>G	ENSP00000514617.1:n.*947T>G
ENST00000699817.1:c.*1651T>G	ENSP00000514618.1:n.*1651T>G
ENST00000699818.1:c.1652T>G	ENSP00000514619.1:p.Phe551Cys
ENST00000699819.1:c.*1214T>G	ENSP00000514620.1:n.*1214T>G
ENST00000699820.1:c.1195T>G	ENSP00000514621.1:p.Leu399Val
ENST00000699821.1:c.1652T>G	ENSP00000514622.1:p.Phe551Cys
ENST00000699822.1:c.*1509T>G	ENSP00000514623.1:n.*1509T>G
ENST00000699823.1:c.1652T>G	ENSP00000514624.1:p.Phe551Cys
ENST00000699824.1:c.*1560T>G	ENSP00000514625.1:n.*1560T>G
ENST00000699825.1:c.1496T>G	ENSP00000514626.1:p.Phe499Cys
ENST00000699826.1:c.*1456T>G	ENSP00000514627.1:n.*1456T>G
ENST00000699827.1:c.1889T>G	ENSP00000514628.1:p.Phe630Cys
ENST00000699828.1:c.*1147T>G	ENSP00000514629.1:n.*1147T>G
ENST00000699833.1:n.3829T>G
ENST00000699837.1:c.1652T>G	ENSP00000514635.1:p.Phe551Cys
ENST00000699838.1:c.*1957T>G	ENSP00000514636.1:n.*1957T>G
ENST00000699839.1:c.2243T>G	ENSP00000514637.1:p.Phe748Cys
ENST00000699916.1:c.*1314T>G	ENSP00000514684.1:n.*1314T>G
ENST00000699917.1:c.*1506T>G	ENSP00000514685.1:n.*1506T>G
ENST00000699918.1:c.*1558T>G	ENSP00000514686.1:n.*1558T>G
ENST00000699919.1:c.*1644T>G	ENSP00000514687.1:n.*1644T>G
ENST00000699920.1:c.*1693T>G	ENSP00000514688.1:n.*1693T>G
ENST00000699928.1:c.1039T>G	ENSP00000514693.1:p.Leu347Val
ENST00000699951.1:c.*1153T>G	ENSP00000514706.1:n.*1153T>G
ENST00000699952.1:c.804-9399T>G	ENSP00000514707.1:n.804-9399T>G
ENST00000265849.12:c.2057T>G MANE Select	ENSP00000265849.7:p.Phe686Cys
ENST00000642292.1:c.1652T>G	ENSP00000495524.1:p.Phe551Cys
ENST00000642456.1:c.1652T>G	ENSP00000493814.1:p.Phe551Cys
ENST00000643595.1:c.*1456T>G	ENSP00000494497.1:n.*1456T>G
ENST00000644110.1:c.1739T>G	ENSP00000496392.1:p.Phe580Cys
ENST00000265849.11:c.2057T>G	ENSP00000265849.7:p.Phe686Cys
ENST00000382321.5:c.854T>G	ENSP00000371758.4:p.Phe285Cys
ENST00000406569.7:n.1678+4146T>G
ENST00000441476.6:c.1739T>G	ENSP00000392843.2:p.Phe580Cys
ENST00000469652.1:n.63-36T>G
NM_000535.5:c.2057T>G , LRG_161t1:c.2057T>G	NP_000526.1:p.Phe686Cys
NR_003085.2:n.2139T>G
XM_006715742.2:c.2051T>G	XP_006715805.1:p.Phe684Cys
XM_006715744.2:c.1124T>G	XP_006715807.1:p.Phe375Cys
XM_011515427.1:c.2102T>G	XP_011513729.1:p.Phe701Cys
XM_011515428.1:c.1946T>G	XP_011513730.1:p.Phe649Cys
XM_011515429.1:c.1739T>G	XP_011513731.1:p.Phe580Cys
XM_011515430.1:c.1739T>G	XP_011513732.1:p.Phe580Cys
NM_000535.6:c.2057T>G	NP_000526.2:p.Phe686Cys
NM_001322003.1:c.1652T>G	NP_001308932.1:p.Phe551Cys
NM_001322004.1:c.1652T>G	NP_001308933.1:p.Phe551Cys
NM_001322005.1:c.1652T>G	NP_001308934.1:p.Phe551Cys
NM_001322006.1:c.1901T>G	NP_001308935.1:p.Phe634Cys
NM_001322007.1:c.1739T>G	NP_001308936.1:p.Phe580Cys
NM_001322008.1:c.1739T>G	NP_001308937.1:p.Phe580Cys
NM_001322009.1:c.1652T>G	NP_001308938.1:p.Phe551Cys
NM_001322010.1:c.1496T>G	NP_001308939.1:p.Phe499Cys
NM_001322011.1:c.1124T>G	NP_001308940.1:p.Phe375Cys
NM_001322012.1:c.1124T>G	NP_001308941.1:p.Phe375Cys
NM_001322013.1:c.1484T>G	NP_001308942.1:p.Phe495Cys
NM_001322014.1:c.2057T>G	NP_001308943.1:p.Phe686Cys
NM_001322015.1:c.1748T>G	NP_001308944.1:p.Phe583Cys
NR_136154.1:n.2144T>G
XM_006715744.4:c.1124T>G	XP_006715807.1:p.Phe375Cys
XM_017012342.2:c.1124T>G	XP_016867831.1:p.Phe375Cys
XM_024446800.1:c.1496T>G	XP_024302568.1:p.Phe499Cys
NM_000535.7:c.2057T>G MANE Select	NP_000526.2:p.Phe686Cys
NM_001322003.2:c.1652T>G	NP_001308932.1:p.Phe551Cys
NM_001322004.2:c.1652T>G	NP_001308933.1:p.Phe551Cys
NM_001322005.2:c.1652T>G	NP_001308934.1:p.Phe551Cys
NM_001322006.2:c.1901T>G	NP_001308935.1:p.Phe634Cys
NM_001322008.2:c.1739T>G	NP_001308937.1:p.Phe580Cys
NM_001322009.2:c.1652T>G	NP_001308938.1:p.Phe551Cys
NM_001322010.2:c.1496T>G	NP_001308939.1:p.Phe499Cys
NM_001322011.2:c.1124T>G	NP_001308940.1:p.Phe375Cys
NM_001322012.2:c.1124T>G	NP_001308941.1:p.Phe375Cys
NM_001322013.2:c.1484T>G	NP_001308942.1:p.Phe495Cys
NM_001322014.2:c.2057T>G	NP_001308943.1:p.Phe686Cys
NM_001322015.2:c.1748T>G	NP_001308944.1:p.Phe583Cys
NM_001322007.2:c.1739T>G	NP_001308936.1:p.Phe580Cys