Canonical Allele Identifier: CA366735676

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1790751
• ClinVar RCV Id: RCV002459664
• dbSNP Id: rs2128672523
• MyVariant Identifiers: chr7:g.6017262G>A (hg19) ; chr7:g.5977631G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977631G>A , CM000669.2:g.5977631G>A	GRCh38
NC_000007.13:g.6017262G>A , CM000669.1:g.6017262G>A	GRCh37
NC_000007.12:g.5983788G>A	NCBI36
NG_008466.1:g.36476C>T , LRG_161:g.36476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1798C>T	ENSP00000514615.2:n.*1798C>T
ENST00000699840.2:c.2399C>T	ENSP00000514638.2:p.Ser800Phe
ENST00000699930.2:c.2294C>T	ENSP00000514695.2:p.Ser765Phe
ENST00000406569.8:c.1762C>T	ENSP00000514464.1:n.1762C>T
ENST00000644110.2:c.*1996C>T	ENSP00000496392.2:n.*1996C>T
ENST00000699752.1:c.2246C>T	ENSP00000514561.1:p.Ser749Phe
ENST00000699753.1:c.*1823C>T	ENSP00000514562.1:n.*1823C>T
ENST00000699754.1:c.2204C>T	ENSP00000514563.1:p.Ser735Phe
ENST00000699755.1:c.*1801C>T	ENSP00000514564.1:n.*1801C>T
ENST00000699756.1:c.*1989C>T	ENSP00000514565.1:n.*1989C>T
ENST00000699757.1:c.*1659C>T	ENSP00000514566.1:n.*1659C>T
ENST00000699758.1:c.*1659C>T	ENSP00000514567.1:n.*1659C>T
ENST00000699759.1:n.3256C>T
ENST00000699760.1:c.2084C>T	ENSP00000514568.1:p.Ser695Phe
ENST00000699761.1:c.1997C>T	ENSP00000514569.1:p.Ser666Phe
ENST00000699762.1:c.1829C>T	ENSP00000514570.1:p.Ser610Phe
ENST00000699763.1:c.*1492C>T	ENSP00000514571.1:n.*1492C>T
ENST00000699764.1:c.*720C>T	ENSP00000514572.1:n.*720C>T
ENST00000699765.1:c.*1397C>T	ENSP00000514573.1:n.*1397C>T
ENST00000699766.1:c.2435C>T	ENSP00000514574.1:p.Ser812Phe
ENST00000699767.1:c.*43C>T	ENSP00000514575.1:n.*43C>T
ENST00000699768.1:c.2258C>T	ENSP00000514576.1:p.Ser753Phe
ENST00000699811.1:c.1997C>T	ENSP00000514614.1:p.Ser666Phe
ENST00000699813.1:n.2515C>T
ENST00000699814.1:c.2025C>T
ENST00000699815.1:c.*1933C>T	ENSP00000514616.1:n.*1933C>T
ENST00000699816.1:c.*1292C>T	ENSP00000514617.1:n.*1292C>T
ENST00000699817.1:c.*1996C>T	ENSP00000514618.1:n.*1996C>T
ENST00000699818.1:c.1997C>T	ENSP00000514619.1:p.Ser666Phe
ENST00000699819.1:c.*1559C>T	ENSP00000514620.1:n.*1559C>T
ENST00000699820.1:c.*340C>T	ENSP00000514621.1:n.*340C>T
ENST00000699821.1:c.2030C>T	ENSP00000514622.1:p.Ser677Phe
ENST00000699822.1:c.*1854C>T	ENSP00000514623.1:n.*1854C>T
ENST00000699823.1:c.1997C>T	ENSP00000514624.1:p.Ser666Phe
ENST00000699824.1:c.*1905C>T	ENSP00000514625.1:n.*1905C>T
ENST00000699825.1:c.1841C>T	ENSP00000514626.1:p.Ser614Phe
ENST00000699826.1:c.*1801C>T	ENSP00000514627.1:n.*1801C>T
ENST00000699827.1:c.2234C>T	ENSP00000514628.1:p.Ser745Phe
ENST00000699828.1:c.*1492C>T	ENSP00000514629.1:n.*1492C>T
ENST00000699833.1:n.4174C>T
ENST00000699837.1:c.1997C>T	ENSP00000514635.1:p.Ser666Phe
ENST00000699838.1:c.*2302C>T	ENSP00000514636.1:n.*2302C>T
ENST00000699839.1:c.2588C>T	ENSP00000514637.1:p.Ser863Phe
ENST00000699916.1:c.*1659C>T	ENSP00000514684.1:n.*1659C>T
ENST00000699917.1:c.*1851C>T	ENSP00000514685.1:n.*1851C>T
ENST00000699918.1:c.*1903C>T	ENSP00000514686.1:n.*1903C>T
ENST00000699919.1:c.*1989C>T	ENSP00000514687.1:n.*1989C>T
ENST00000699920.1:c.*2038C>T	ENSP00000514688.1:n.*2038C>T
ENST00000699928.1:c.*340C>T	ENSP00000514693.1:n.*340C>T
ENST00000699951.1:c.*1455C>T	ENSP00000514706.1:n.*1455C>T
ENST00000699952.1:c.804-4089C>T	ENSP00000514707.1:n.804-4089C>T
ENST00000265849.12:c.2402C>T MANE Select	ENSP00000265849.7:p.Ser801Phe
ENST00000642292.1:c.1997C>T	ENSP00000495524.1:p.Ser666Phe
ENST00000642456.1:c.1997C>T	ENSP00000493814.1:p.Ser666Phe
ENST00000643595.1:c.*1801C>T	ENSP00000494497.1:n.*1801C>T
ENST00000644110.1:c.2084C>T	ENSP00000496392.1:p.Ser695Phe
ENST00000265849.11:c.2402C>T	ENSP00000265849.7:p.Ser801Phe
ENST00000382321.5:c.1199C>T	ENSP00000371758.4:p.Ser400Phe
ENST00000441476.6:c.2084C>T	ENSP00000392843.2:p.Ser695Phe
NM_000535.5:c.2402C>T , LRG_161t1:c.2402C>T	NP_000526.1:p.Ser801Phe
NR_003085.2:n.2484C>T
XM_006715742.2:c.2396C>T	XP_006715805.1:p.Ser799Phe
XM_006715744.2:c.1469C>T	XP_006715807.1:p.Ser490Phe
XM_011515427.1:c.2447C>T	XP_011513729.1:p.Ser816Phe
XM_011515428.1:c.2291C>T	XP_011513730.1:p.Ser764Phe
XM_011515429.1:c.2084C>T	XP_011513731.1:p.Ser695Phe
XM_011515430.1:c.2084C>T	XP_011513732.1:p.Ser695Phe
NM_000535.6:c.2402C>T	NP_000526.2:p.Ser801Phe
NM_001322003.1:c.1997C>T	NP_001308932.1:p.Ser666Phe
NM_001322004.1:c.1997C>T	NP_001308933.1:p.Ser666Phe
NM_001322005.1:c.1997C>T	NP_001308934.1:p.Ser666Phe
NM_001322006.1:c.2246C>T	NP_001308935.1:p.Ser749Phe
NM_001322007.1:c.2084C>T	NP_001308936.1:p.Ser695Phe
NM_001322008.1:c.2084C>T	NP_001308937.1:p.Ser695Phe
NM_001322009.1:c.2030C>T	NP_001308938.1:p.Ser677Phe
NM_001322010.1:c.1841C>T	NP_001308939.1:p.Ser614Phe
NM_001322011.1:c.1469C>T	NP_001308940.1:p.Ser490Phe
NM_001322012.1:c.1469C>T	NP_001308941.1:p.Ser490Phe
NM_001322013.1:c.1829C>T	NP_001308942.1:p.Ser610Phe
NM_001322014.1:c.2435C>T	NP_001308943.1:p.Ser812Phe
NM_001322015.1:c.2093C>T	NP_001308944.1:p.Ser698Phe
NR_136154.1:n.2446C>T
XM_006715744.4:c.1469C>T	XP_006715807.1:p.Ser490Phe
XM_017012342.2:c.1469C>T	XP_016867831.1:p.Ser490Phe
XM_024446800.1:c.1841C>T	XP_024302568.1:p.Ser614Phe
NM_000535.7:c.2402C>T MANE Select	NP_000526.2:p.Ser801Phe
NM_001322003.2:c.1997C>T	NP_001308932.1:p.Ser666Phe
NM_001322004.2:c.1997C>T	NP_001308933.1:p.Ser666Phe
NM_001322005.2:c.1997C>T	NP_001308934.1:p.Ser666Phe
NM_001322006.2:c.2246C>T	NP_001308935.1:p.Ser749Phe
NM_001322008.2:c.2084C>T	NP_001308937.1:p.Ser695Phe
NM_001322009.2:c.2030C>T	NP_001308938.1:p.Ser677Phe
NM_001322010.2:c.1841C>T	NP_001308939.1:p.Ser614Phe
NM_001322011.2:c.1469C>T	NP_001308940.1:p.Ser490Phe
NM_001322012.2:c.1469C>T	NP_001308941.1:p.Ser490Phe
NM_001322013.2:c.1829C>T	NP_001308942.1:p.Ser610Phe
NM_001322014.2:c.2435C>T	NP_001308943.1:p.Ser812Phe
NM_001322015.2:c.2093C>T	NP_001308944.1:p.Ser698Phe
NM_001322007.2:c.2084C>T	NP_001308936.1:p.Ser695Phe