Canonical Allele Identifier: CA011547

Gene: PMS2

Linked Data

• ClinVar Variation Id: 141291
• ClinVar RCV Id: RCV000129748 ; RCV003453067
• dbSNP Id: rs587781636
• gnomAD v4: 7-5973523-A-G
• MyVariant Identifiers: chr7:g.6013154A>G (hg19) ; chr7:g.5973523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973523A>G , CM000669.2:g.5973523A>G	GRCh38
NC_000007.13:g.6013154A>G , CM000669.1:g.6013154A>G	GRCh37
NC_000007.12:g.5979680A>G	NCBI36
NG_008466.1:g.40584T>C , LRG_161:g.40584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1861T>C	ENSP00000514615.2:n.*1861T>C
ENST00000699840.2:c.2462T>C	ENSP00000514638.2:p.Leu821Pro
ENST00000699930.2:c.2357T>C	ENSP00000514695.2:p.Leu786Pro
ENST00000406569.8:c.1825T>C	ENSP00000514464.1:n.1825T>C
ENST00000644110.2:c.*2059T>C	ENSP00000496392.2:n.*2059T>C
ENST00000699752.1:c.2309T>C	ENSP00000514561.1:p.Leu770Pro
ENST00000699753.1:c.*1886T>C	ENSP00000514562.1:n.*1886T>C
ENST00000699754.1:c.2267T>C	ENSP00000514563.1:p.Leu756Pro
ENST00000699755.1:c.*1864T>C	ENSP00000514564.1:n.*1864T>C
ENST00000699756.1:c.*2052T>C	ENSP00000514565.1:n.*2052T>C
ENST00000699757.1:c.*1722T>C	ENSP00000514566.1:n.*1722T>C
ENST00000699758.1:c.*1722T>C	ENSP00000514567.1:n.*1722T>C
ENST00000699759.1:n.3319T>C
ENST00000699760.1:c.2147T>C	ENSP00000514568.1:p.Leu716Pro
ENST00000699761.1:c.2060T>C	ENSP00000514569.1:p.Leu687Pro
ENST00000699762.1:c.1892T>C	ENSP00000514570.1:p.Leu631Pro
ENST00000699763.1:c.*1555T>C	ENSP00000514571.1:n.*1555T>C
ENST00000699764.1:c.*783T>C	ENSP00000514572.1:n.*783T>C
ENST00000699765.1:c.*1460T>C	ENSP00000514573.1:n.*1460T>C
ENST00000699766.1:c.2498T>C	ENSP00000514574.1:p.Leu833Pro
ENST00000699767.1:c.*106T>C	ENSP00000514575.1:n.*106T>C
ENST00000699768.1:c.2321T>C	ENSP00000514576.1:p.Leu774Pro
ENST00000699811.1:c.2060T>C	ENSP00000514614.1:p.Leu687Pro
ENST00000699813.1:n.2578T>C
ENST00000699814.1:c.2088T>C
ENST00000699815.1:c.*1996T>C	ENSP00000514616.1:n.*1996T>C
ENST00000699816.1:c.*1355T>C	ENSP00000514617.1:n.*1355T>C
ENST00000699817.1:c.*2059T>C	ENSP00000514618.1:n.*2059T>C
ENST00000699818.1:c.2060T>C	ENSP00000514619.1:p.Leu687Pro
ENST00000699819.1:c.*1622T>C	ENSP00000514620.1:n.*1622T>C
ENST00000699820.1:c.*403T>C	ENSP00000514621.1:n.*403T>C
ENST00000699821.1:c.2093T>C	ENSP00000514622.1:p.Leu698Pro
ENST00000699822.1:c.*1917T>C	ENSP00000514623.1:n.*1917T>C
ENST00000699823.1:c.2060T>C	ENSP00000514624.1:p.Leu687Pro
ENST00000699824.1:c.*1968T>C	ENSP00000514625.1:n.*1968T>C
ENST00000699825.1:c.1904T>C	ENSP00000514626.1:p.Leu635Pro
ENST00000699826.1:c.*1864T>C	ENSP00000514627.1:n.*1864T>C
ENST00000699827.1:c.2297T>C	ENSP00000514628.1:p.Leu766Pro
ENST00000699828.1:c.*1555T>C	ENSP00000514629.1:n.*1555T>C
ENST00000699833.1:n.4237T>C
ENST00000699837.1:c.2060T>C	ENSP00000514635.1:p.Leu687Pro
ENST00000699838.1:c.*2365T>C	ENSP00000514636.1:n.*2365T>C
ENST00000699839.1:c.2651T>C	ENSP00000514637.1:p.Leu884Pro
ENST00000699916.1:c.*1722T>C	ENSP00000514684.1:n.*1722T>C
ENST00000699917.1:c.*1914T>C	ENSP00000514685.1:n.*1914T>C
ENST00000699918.1:c.*1966T>C	ENSP00000514686.1:n.*1966T>C
ENST00000699919.1:c.*2052T>C	ENSP00000514687.1:n.*2052T>C
ENST00000699920.1:c.*2101T>C	ENSP00000514688.1:n.*2101T>C
ENST00000699928.1:c.*403T>C	ENSP00000514693.1:n.*403T>C
ENST00000699951.1:c.*1518T>C	ENSP00000514706.1:n.*1518T>C
ENST00000699952.1:c.*19T>C	ENSP00000514707.1:n.*19T>C
ENST00000265849.12:c.2465T>C MANE Select	ENSP00000265849.7:p.Leu822Pro
ENST00000642292.1:c.2060T>C	ENSP00000495524.1:p.Leu687Pro
ENST00000642456.1:c.2060T>C	ENSP00000493814.1:p.Leu687Pro
ENST00000643595.1:c.*1864T>C	ENSP00000494497.1:n.*1864T>C
ENST00000644110.1:c.2147T>C	ENSP00000496392.1:p.Leu716Pro
ENST00000265849.11:c.2465T>C	ENSP00000265849.7:p.Leu822Pro
ENST00000382321.5:c.1262T>C	ENSP00000371758.4:p.Leu421Pro
ENST00000441476.6:c.2147T>C	ENSP00000392843.2:p.Leu716Pro
NM_000535.5:c.2465T>C , LRG_161t1:c.2465T>C	NP_000526.1:p.Leu822Pro
NR_003085.2:n.2547T>C
XM_006715742.2:c.2459T>C	XP_006715805.1:p.Leu820Pro
XM_006715744.2:c.1532T>C	XP_006715807.1:p.Leu511Pro
XM_011515427.1:c.2510T>C	XP_011513729.1:p.Leu837Pro
XM_011515428.1:c.2354T>C	XP_011513730.1:p.Leu785Pro
XM_011515429.1:c.2147T>C	XP_011513731.1:p.Leu716Pro
XM_011515430.1:c.2147T>C	XP_011513732.1:p.Leu716Pro
NM_000535.6:c.2465T>C	NP_000526.2:p.Leu822Pro
NM_001322003.1:c.2060T>C	NP_001308932.1:p.Leu687Pro
NM_001322004.1:c.2060T>C	NP_001308933.1:p.Leu687Pro
NM_001322005.1:c.2060T>C	NP_001308934.1:p.Leu687Pro
NM_001322006.1:c.2309T>C	NP_001308935.1:p.Leu770Pro
NM_001322007.1:c.2147T>C	NP_001308936.1:p.Leu716Pro
NM_001322008.1:c.2147T>C	NP_001308937.1:p.Leu716Pro
NM_001322009.1:c.2093T>C	NP_001308938.1:p.Leu698Pro
NM_001322010.1:c.1904T>C	NP_001308939.1:p.Leu635Pro
NM_001322011.1:c.1532T>C	NP_001308940.1:p.Leu511Pro
NM_001322012.1:c.1532T>C	NP_001308941.1:p.Leu511Pro
NM_001322013.1:c.1892T>C	NP_001308942.1:p.Leu631Pro
NM_001322014.1:c.2498T>C	NP_001308943.1:p.Leu833Pro
NM_001322015.1:c.2156T>C	NP_001308944.1:p.Leu719Pro
NR_136154.1:n.2509T>C
XM_006715744.4:c.1532T>C	XP_006715807.1:p.Leu511Pro
XM_017012342.2:c.1532T>C	XP_016867831.1:p.Leu511Pro
XM_024446800.1:c.1904T>C	XP_024302568.1:p.Leu635Pro
NM_000535.7:c.2465T>C MANE Select	NP_000526.2:p.Leu822Pro
NM_001322003.2:c.2060T>C	NP_001308932.1:p.Leu687Pro
NM_001322004.2:c.2060T>C	NP_001308933.1:p.Leu687Pro
NM_001322005.2:c.2060T>C	NP_001308934.1:p.Leu687Pro
NM_001322006.2:c.2309T>C	NP_001308935.1:p.Leu770Pro
NM_001322008.2:c.2147T>C	NP_001308937.1:p.Leu716Pro
NM_001322009.2:c.2093T>C	NP_001308938.1:p.Leu698Pro
NM_001322010.2:c.1904T>C	NP_001308939.1:p.Leu635Pro
NM_001322011.2:c.1532T>C	NP_001308940.1:p.Leu511Pro
NM_001322012.2:c.1532T>C	NP_001308941.1:p.Leu511Pro
NM_001322013.2:c.1892T>C	NP_001308942.1:p.Leu631Pro
NM_001322014.2:c.2498T>C	NP_001308943.1:p.Leu833Pro
NM_001322015.2:c.2156T>C	NP_001308944.1:p.Leu719Pro
NM_001322007.2:c.2147T>C	NP_001308936.1:p.Leu716Pro