Canonical Allele Identifier: CA366735632

Gene: PMS2

Linked Data

• ClinVar Variation Id: 484327
• ClinVar RCV Id: RCV000561744 ; RCV000702033
• dbSNP Id: rs1554293792
• gnomAD v4: 7-5977617-T-A
• MyVariant Identifiers: chr7:g.6017248T>A (hg19) ; chr7:g.5977617T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977617T>A , CM000669.2:g.5977617T>A	GRCh38
NC_000007.13:g.6017248T>A , CM000669.1:g.6017248T>A	GRCh37
NC_000007.12:g.5983774T>A	NCBI36
NG_008466.1:g.36490A>T , LRG_161:g.36490A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1812A>T	ENSP00000514615.2:n.*1812A>T
ENST00000699840.2:c.2413A>T	ENSP00000514638.2:p.Met805Leu
ENST00000699930.2:c.2308A>T	ENSP00000514695.2:p.Met770Leu
ENST00000406569.8:c.1776A>T	ENSP00000514464.1:n.1776A>T
ENST00000644110.2:c.*2010A>T	ENSP00000496392.2:n.*2010A>T
ENST00000699752.1:c.2260A>T	ENSP00000514561.1:p.Met754Leu
ENST00000699753.1:c.*1837A>T	ENSP00000514562.1:n.*1837A>T
ENST00000699754.1:c.2218A>T	ENSP00000514563.1:p.Met740Leu
ENST00000699755.1:c.*1815A>T	ENSP00000514564.1:n.*1815A>T
ENST00000699756.1:c.*2003A>T	ENSP00000514565.1:n.*2003A>T
ENST00000699757.1:c.*1673A>T	ENSP00000514566.1:n.*1673A>T
ENST00000699758.1:c.*1673A>T	ENSP00000514567.1:n.*1673A>T
ENST00000699759.1:n.3270A>T
ENST00000699760.1:c.2098A>T	ENSP00000514568.1:p.Met700Leu
ENST00000699761.1:c.2011A>T	ENSP00000514569.1:p.Met671Leu
ENST00000699762.1:c.1843A>T	ENSP00000514570.1:p.Met615Leu
ENST00000699763.1:c.*1506A>T	ENSP00000514571.1:n.*1506A>T
ENST00000699764.1:c.*734A>T	ENSP00000514572.1:n.*734A>T
ENST00000699765.1:c.*1411A>T	ENSP00000514573.1:n.*1411A>T
ENST00000699766.1:c.2449A>T	ENSP00000514574.1:p.Met817Leu
ENST00000699767.1:c.*57A>T	ENSP00000514575.1:n.*57A>T
ENST00000699768.1:c.2272A>T	ENSP00000514576.1:p.Met758Leu
ENST00000699811.1:c.2011A>T	ENSP00000514614.1:p.Met671Leu
ENST00000699813.1:n.2529A>T
ENST00000699814.1:c.2039A>T
ENST00000699815.1:c.*1947A>T	ENSP00000514616.1:n.*1947A>T
ENST00000699816.1:c.*1306A>T	ENSP00000514617.1:n.*1306A>T
ENST00000699817.1:c.*2010A>T	ENSP00000514618.1:n.*2010A>T
ENST00000699818.1:c.2011A>T	ENSP00000514619.1:p.Met671Leu
ENST00000699819.1:c.*1573A>T	ENSP00000514620.1:n.*1573A>T
ENST00000699820.1:c.*354A>T	ENSP00000514621.1:n.*354A>T
ENST00000699821.1:c.2044A>T	ENSP00000514622.1:p.Met682Leu
ENST00000699822.1:c.*1868A>T	ENSP00000514623.1:n.*1868A>T
ENST00000699823.1:c.2011A>T	ENSP00000514624.1:p.Met671Leu
ENST00000699824.1:c.*1919A>T	ENSP00000514625.1:n.*1919A>T
ENST00000699825.1:c.1855A>T	ENSP00000514626.1:p.Met619Leu
ENST00000699826.1:c.*1815A>T	ENSP00000514627.1:n.*1815A>T
ENST00000699827.1:c.2248A>T	ENSP00000514628.1:p.Met750Leu
ENST00000699828.1:c.*1506A>T	ENSP00000514629.1:n.*1506A>T
ENST00000699833.1:n.4188A>T
ENST00000699837.1:c.2011A>T	ENSP00000514635.1:p.Met671Leu
ENST00000699838.1:c.*2316A>T	ENSP00000514636.1:n.*2316A>T
ENST00000699839.1:c.2602A>T	ENSP00000514637.1:p.Met868Leu
ENST00000699916.1:c.*1673A>T	ENSP00000514684.1:n.*1673A>T
ENST00000699917.1:c.*1865A>T	ENSP00000514685.1:n.*1865A>T
ENST00000699918.1:c.*1917A>T	ENSP00000514686.1:n.*1917A>T
ENST00000699919.1:c.*2003A>T	ENSP00000514687.1:n.*2003A>T
ENST00000699920.1:c.*2052A>T	ENSP00000514688.1:n.*2052A>T
ENST00000699928.1:c.*354A>T	ENSP00000514693.1:n.*354A>T
ENST00000699951.1:c.*1469A>T	ENSP00000514706.1:n.*1469A>T
ENST00000699952.1:c.804-4075A>T	ENSP00000514707.1:n.804-4075A>T
ENST00000265849.12:c.2416A>T MANE Select	ENSP00000265849.7:p.Met806Leu
ENST00000642292.1:c.2011A>T	ENSP00000495524.1:p.Met671Leu
ENST00000642456.1:c.2011A>T	ENSP00000493814.1:p.Met671Leu
ENST00000643595.1:c.*1815A>T	ENSP00000494497.1:n.*1815A>T
ENST00000644110.1:c.2098A>T	ENSP00000496392.1:p.Met700Leu
ENST00000265849.11:c.2416A>T	ENSP00000265849.7:p.Met806Leu
ENST00000382321.5:c.1213A>T	ENSP00000371758.4:p.Met405Leu
ENST00000441476.6:c.2098A>T	ENSP00000392843.2:p.Met700Leu
NM_000535.5:c.2416A>T , LRG_161t1:c.2416A>T	NP_000526.1:p.Met806Leu
NR_003085.2:n.2498A>T
XM_006715742.2:c.2410A>T	XP_006715805.1:p.Met804Leu
XM_006715744.2:c.1483A>T	XP_006715807.1:p.Met495Leu
XM_011515427.1:c.2461A>T	XP_011513729.1:p.Met821Leu
XM_011515428.1:c.2305A>T	XP_011513730.1:p.Met769Leu
XM_011515429.1:c.2098A>T	XP_011513731.1:p.Met700Leu
XM_011515430.1:c.2098A>T	XP_011513732.1:p.Met700Leu
NM_000535.6:c.2416A>T	NP_000526.2:p.Met806Leu
NM_001322003.1:c.2011A>T	NP_001308932.1:p.Met671Leu
NM_001322004.1:c.2011A>T	NP_001308933.1:p.Met671Leu
NM_001322005.1:c.2011A>T	NP_001308934.1:p.Met671Leu
NM_001322006.1:c.2260A>T	NP_001308935.1:p.Met754Leu
NM_001322007.1:c.2098A>T	NP_001308936.1:p.Met700Leu
NM_001322008.1:c.2098A>T	NP_001308937.1:p.Met700Leu
NM_001322009.1:c.2044A>T	NP_001308938.1:p.Met682Leu
NM_001322010.1:c.1855A>T	NP_001308939.1:p.Met619Leu
NM_001322011.1:c.1483A>T	NP_001308940.1:p.Met495Leu
NM_001322012.1:c.1483A>T	NP_001308941.1:p.Met495Leu
NM_001322013.1:c.1843A>T	NP_001308942.1:p.Met615Leu
NM_001322014.1:c.2449A>T	NP_001308943.1:p.Met817Leu
NM_001322015.1:c.2107A>T	NP_001308944.1:p.Met703Leu
NR_136154.1:n.2460A>T
XM_006715744.4:c.1483A>T	XP_006715807.1:p.Met495Leu
XM_017012342.2:c.1483A>T	XP_016867831.1:p.Met495Leu
XM_024446800.1:c.1855A>T	XP_024302568.1:p.Met619Leu
NM_000535.7:c.2416A>T MANE Select	NP_000526.2:p.Met806Leu
NM_001322003.2:c.2011A>T	NP_001308932.1:p.Met671Leu
NM_001322004.2:c.2011A>T	NP_001308933.1:p.Met671Leu
NM_001322005.2:c.2011A>T	NP_001308934.1:p.Met671Leu
NM_001322006.2:c.2260A>T	NP_001308935.1:p.Met754Leu
NM_001322008.2:c.2098A>T	NP_001308937.1:p.Met700Leu
NM_001322009.2:c.2044A>T	NP_001308938.1:p.Met682Leu
NM_001322010.2:c.1855A>T	NP_001308939.1:p.Met619Leu
NM_001322011.2:c.1483A>T	NP_001308940.1:p.Met495Leu
NM_001322012.2:c.1483A>T	NP_001308941.1:p.Met495Leu
NM_001322013.2:c.1843A>T	NP_001308942.1:p.Met615Leu
NM_001322014.2:c.2449A>T	NP_001308943.1:p.Met817Leu
NM_001322015.2:c.2107A>T	NP_001308944.1:p.Met703Leu
NM_001322007.2:c.2098A>T	NP_001308936.1:p.Met700Leu