Canonical Allele Identifier: CA011432

Gene: PMS2

Linked Data

• ClinVar Variation Id: 41712
• ClinVar RCV Id: RCV000034627 ; RCV000688719 ; RCV003298041
• dbSNP Id: rs200629542
• MyVariant Identifiers: chr7:g.6017265G>A (hg19) ; chr7:g.5977634G>A (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977634G>A , CM000669.2:g.5977634G>A	GRCh38
NC_000007.13:g.6017265G>A , CM000669.1:g.6017265G>A	GRCh37
NC_000007.12:g.5983791G>A	NCBI36
NG_008466.1:g.36473C>T , LRG_161:g.36473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1795C>T	ENSP00000514615.2:n.*1795C>T
ENST00000699840.2:c.2396C>T	ENSP00000514638.2:p.Pro799Leu
ENST00000699930.2:c.2291C>T	ENSP00000514695.2:p.Pro764Leu
ENST00000406569.8:c.1759C>T	ENSP00000514464.1:n.1759C>T
ENST00000644110.2:c.*1993C>T	ENSP00000496392.2:n.*1993C>T
ENST00000699752.1:c.2243C>T	ENSP00000514561.1:p.Pro748Leu
ENST00000699753.1:c.*1820C>T	ENSP00000514562.1:n.*1820C>T
ENST00000699754.1:c.2201C>T	ENSP00000514563.1:p.Pro734Leu
ENST00000699755.1:c.*1798C>T	ENSP00000514564.1:n.*1798C>T
ENST00000699756.1:c.*1986C>T	ENSP00000514565.1:n.*1986C>T
ENST00000699757.1:c.*1656C>T	ENSP00000514566.1:n.*1656C>T
ENST00000699758.1:c.*1656C>T	ENSP00000514567.1:n.*1656C>T
ENST00000699759.1:n.3253C>T
ENST00000699760.1:c.2081C>T	ENSP00000514568.1:p.Pro694Leu
ENST00000699761.1:c.1994C>T	ENSP00000514569.1:p.Pro665Leu
ENST00000699762.1:c.1826C>T	ENSP00000514570.1:p.Pro609Leu
ENST00000699763.1:c.*1489C>T	ENSP00000514571.1:n.*1489C>T
ENST00000699764.1:c.*717C>T	ENSP00000514572.1:n.*717C>T
ENST00000699765.1:c.*1394C>T	ENSP00000514573.1:n.*1394C>T
ENST00000699766.1:c.2432C>T	ENSP00000514574.1:p.Pro811Leu
ENST00000699767.1:c.*40C>T	ENSP00000514575.1:n.*40C>T
ENST00000699768.1:c.2255C>T	ENSP00000514576.1:p.Pro752Leu
ENST00000699811.1:c.1994C>T	ENSP00000514614.1:p.Pro665Leu
ENST00000699813.1:n.2512C>T
ENST00000699814.1:c.2022C>T
ENST00000699815.1:c.*1930C>T	ENSP00000514616.1:n.*1930C>T
ENST00000699816.1:c.*1289C>T	ENSP00000514617.1:n.*1289C>T
ENST00000699817.1:c.*1993C>T	ENSP00000514618.1:n.*1993C>T
ENST00000699818.1:c.1994C>T	ENSP00000514619.1:p.Pro665Leu
ENST00000699819.1:c.*1556C>T	ENSP00000514620.1:n.*1556C>T
ENST00000699820.1:c.*337C>T	ENSP00000514621.1:n.*337C>T
ENST00000699821.1:c.2027C>T	ENSP00000514622.1:p.Pro676Leu
ENST00000699822.1:c.*1851C>T	ENSP00000514623.1:n.*1851C>T
ENST00000699823.1:c.1994C>T	ENSP00000514624.1:p.Pro665Leu
ENST00000699824.1:c.*1902C>T	ENSP00000514625.1:n.*1902C>T
ENST00000699825.1:c.1838C>T	ENSP00000514626.1:p.Pro613Leu
ENST00000699826.1:c.*1798C>T	ENSP00000514627.1:n.*1798C>T
ENST00000699827.1:c.2231C>T	ENSP00000514628.1:p.Pro744Leu
ENST00000699828.1:c.*1489C>T	ENSP00000514629.1:n.*1489C>T
ENST00000699833.1:n.4171C>T
ENST00000699837.1:c.1994C>T	ENSP00000514635.1:p.Pro665Leu
ENST00000699838.1:c.*2299C>T	ENSP00000514636.1:n.*2299C>T
ENST00000699839.1:c.2585C>T	ENSP00000514637.1:p.Pro862Leu
ENST00000699916.1:c.*1656C>T	ENSP00000514684.1:n.*1656C>T
ENST00000699917.1:c.*1848C>T	ENSP00000514685.1:n.*1848C>T
ENST00000699918.1:c.*1900C>T	ENSP00000514686.1:n.*1900C>T
ENST00000699919.1:c.*1986C>T	ENSP00000514687.1:n.*1986C>T
ENST00000699920.1:c.*2035C>T	ENSP00000514688.1:n.*2035C>T
ENST00000699928.1:c.*337C>T	ENSP00000514693.1:n.*337C>T
ENST00000699951.1:c.*1452C>T	ENSP00000514706.1:n.*1452C>T
ENST00000699952.1:c.804-4092C>T	ENSP00000514707.1:n.804-4092C>T
ENST00000265849.12:c.2399C>T MANE Select	ENSP00000265849.7:p.Pro800Leu
ENST00000642292.1:c.1994C>T	ENSP00000495524.1:p.Pro665Leu
ENST00000642456.1:c.1994C>T	ENSP00000493814.1:p.Pro665Leu
ENST00000643595.1:c.*1798C>T	ENSP00000494497.1:n.*1798C>T
ENST00000644110.1:c.2081C>T	ENSP00000496392.1:p.Pro694Leu
ENST00000265849.11:c.2399C>T	ENSP00000265849.7:p.Pro800Leu
ENST00000382321.5:c.1196C>T	ENSP00000371758.4:p.Pro399Leu
ENST00000441476.6:c.2081C>T	ENSP00000392843.2:p.Pro694Leu
NM_000535.5:c.2399C>T , LRG_161t1:c.2399C>T	NP_000526.1:p.Pro800Leu
NR_003085.2:n.2481C>T
XM_006715742.2:c.2393C>T	XP_006715805.1:p.Pro798Leu
XM_006715744.2:c.1466C>T	XP_006715807.1:p.Pro489Leu
XM_011515427.1:c.2444C>T	XP_011513729.1:p.Pro815Leu
XM_011515428.1:c.2288C>T	XP_011513730.1:p.Pro763Leu
XM_011515429.1:c.2081C>T	XP_011513731.1:p.Pro694Leu
XM_011515430.1:c.2081C>T	XP_011513732.1:p.Pro694Leu
NM_000535.6:c.2399C>T	NP_000526.2:p.Pro800Leu
NM_001322003.1:c.1994C>T	NP_001308932.1:p.Pro665Leu
NM_001322004.1:c.1994C>T	NP_001308933.1:p.Pro665Leu
NM_001322005.1:c.1994C>T	NP_001308934.1:p.Pro665Leu
NM_001322006.1:c.2243C>T	NP_001308935.1:p.Pro748Leu
NM_001322007.1:c.2081C>T	NP_001308936.1:p.Pro694Leu
NM_001322008.1:c.2081C>T	NP_001308937.1:p.Pro694Leu
NM_001322009.1:c.2027C>T	NP_001308938.1:p.Pro676Leu
NM_001322010.1:c.1838C>T	NP_001308939.1:p.Pro613Leu
NM_001322011.1:c.1466C>T	NP_001308940.1:p.Pro489Leu
NM_001322012.1:c.1466C>T	NP_001308941.1:p.Pro489Leu
NM_001322013.1:c.1826C>T	NP_001308942.1:p.Pro609Leu
NM_001322014.1:c.2432C>T	NP_001308943.1:p.Pro811Leu
NM_001322015.1:c.2090C>T	NP_001308944.1:p.Pro697Leu
NR_136154.1:n.2443C>T
XM_006715744.4:c.1466C>T	XP_006715807.1:p.Pro489Leu
XM_017012342.2:c.1466C>T	XP_016867831.1:p.Pro489Leu
XM_024446800.1:c.1838C>T	XP_024302568.1:p.Pro613Leu
NM_000535.7:c.2399C>T MANE Select	NP_000526.2:p.Pro800Leu
NM_001322003.2:c.1994C>T	NP_001308932.1:p.Pro665Leu
NM_001322004.2:c.1994C>T	NP_001308933.1:p.Pro665Leu
NM_001322005.2:c.1994C>T	NP_001308934.1:p.Pro665Leu
NM_001322006.2:c.2243C>T	NP_001308935.1:p.Pro748Leu
NM_001322008.2:c.2081C>T	NP_001308937.1:p.Pro694Leu
NM_001322009.2:c.2027C>T	NP_001308938.1:p.Pro676Leu
NM_001322010.2:c.1838C>T	NP_001308939.1:p.Pro613Leu
NM_001322011.2:c.1466C>T	NP_001308940.1:p.Pro489Leu
NM_001322012.2:c.1466C>T	NP_001308941.1:p.Pro489Leu
NM_001322013.2:c.1826C>T	NP_001308942.1:p.Pro609Leu
NM_001322014.2:c.2432C>T	NP_001308943.1:p.Pro811Leu
NM_001322015.2:c.2090C>T	NP_001308944.1:p.Pro697Leu
NM_001322007.2:c.2081C>T	NP_001308936.1:p.Pro694Leu