Canonical Allele Identifier: CA366734741
Gene: PMS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.6013046A>T (hg19) chr7:g.5973415A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5973415A>T , CM000669.2:g.5973415A>T GRCh38
NC_000007.13:g.6013046A>T , CM000669.1:g.6013046A>T GRCh37
NC_000007.12:g.5979572A>T NCBI36
NG_008466.1:g.40692T>A , LRG_161:g.40692T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1969T>A ENSP00000514615.2:n.*1969T>A
ENST00000699840.2:c.2570T>A ENSP00000514638.2:p.Val857Asp
ENST00000699930.2:c.2465T>A ENSP00000514695.2:p.Val822Asp
ENST00000406569.8:c.1933T>A ENSP00000514464.1:n.1933T>A
ENST00000644110.2:c.*2167T>A ENSP00000496392.2:n.*2167T>A
ENST00000699752.1:c.2417T>A ENSP00000514561.1:p.Val806Asp
ENST00000699753.1:c.*1994T>A ENSP00000514562.1:n.*1994T>A
ENST00000699754.1:c.2375T>A ENSP00000514563.1:p.Val792Asp
ENST00000699755.1:c.*1972T>A ENSP00000514564.1:n.*1972T>A
ENST00000699756.1:c.*2160T>A ENSP00000514565.1:n.*2160T>A
ENST00000699757.1:c.*1830T>A ENSP00000514566.1:n.*1830T>A
ENST00000699758.1:c.*1830T>A ENSP00000514567.1:n.*1830T>A
ENST00000699759.1:n.3427T>A
ENST00000699760.1:c.2255T>A ENSP00000514568.1:p.Val752Asp
ENST00000699761.1:c.2168T>A ENSP00000514569.1:p.Val723Asp
ENST00000699762.1:c.2000T>A ENSP00000514570.1:p.Val667Asp
ENST00000699763.1:c.*1663T>A ENSP00000514571.1:n.*1663T>A
ENST00000699764.1:c.*891T>A ENSP00000514572.1:n.*891T>A
ENST00000699765.1:c.*1568T>A ENSP00000514573.1:n.*1568T>A
ENST00000699766.1:c.2606T>A ENSP00000514574.1:p.Val869Asp
ENST00000699767.1:c.*214T>A ENSP00000514575.1:n.*214T>A
ENST00000699768.1:c.2429T>A ENSP00000514576.1:p.Val810Asp
ENST00000699811.1:c.2168T>A ENSP00000514614.1:p.Val723Asp
ENST00000699813.1:n.2686T>A
ENST00000699814.1:c.2196T>A
ENST00000699815.1:c.*2104T>A ENSP00000514616.1:n.*2104T>A
ENST00000699816.1:c.*1463T>A ENSP00000514617.1:n.*1463T>A
ENST00000699817.1:c.*2167T>A ENSP00000514618.1:n.*2167T>A
ENST00000699818.1:c.2168T>A ENSP00000514619.1:p.Val723Asp
ENST00000699819.1:c.*1730T>A ENSP00000514620.1:n.*1730T>A
ENST00000699820.1:c.*511T>A ENSP00000514621.1:n.*511T>A
ENST00000699821.1:c.2201T>A ENSP00000514622.1:p.Val734Asp
ENST00000699822.1:c.*2025T>A ENSP00000514623.1:n.*2025T>A
ENST00000699823.1:c.2168T>A ENSP00000514624.1:p.Val723Asp
ENST00000699824.1:c.*2076T>A ENSP00000514625.1:n.*2076T>A
ENST00000699825.1:c.2012T>A ENSP00000514626.1:p.Val671Asp
ENST00000699826.1:c.*1972T>A ENSP00000514627.1:n.*1972T>A
ENST00000699827.1:c.2405T>A ENSP00000514628.1:p.Val802Asp
ENST00000699828.1:c.*1663T>A ENSP00000514629.1:n.*1663T>A
ENST00000699833.1:n.4345T>A
ENST00000699837.1:c.2168T>A ENSP00000514635.1:p.Val723Asp
ENST00000699838.1:c.*2473T>A ENSP00000514636.1:n.*2473T>A
ENST00000699839.1:c.2759T>A ENSP00000514637.1:p.Val920Asp
ENST00000699916.1:c.*1830T>A ENSP00000514684.1:n.*1830T>A
ENST00000699917.1:c.*2022T>A ENSP00000514685.1:n.*2022T>A
ENST00000699918.1:c.*2074T>A ENSP00000514686.1:n.*2074T>A
ENST00000699919.1:c.*2160T>A ENSP00000514687.1:n.*2160T>A
ENST00000699920.1:c.*2209T>A ENSP00000514688.1:n.*2209T>A
ENST00000699928.1:c.*511T>A ENSP00000514693.1:n.*511T>A
ENST00000699951.1:c.*1626T>A ENSP00000514706.1:n.*1626T>A
ENST00000699952.1:c.*127T>A ENSP00000514707.1:n.*127T>A
ENST00000265849.12:c.2573T>A MANE Select ENSP00000265849.7:p.Val858Asp
ENST00000642292.1:c.2168T>A ENSP00000495524.1:p.Val723Asp
ENST00000642456.1:c.2168T>A ENSP00000493814.1:p.Val723Asp
ENST00000643595.1:c.*1972T>A ENSP00000494497.1:n.*1972T>A
ENST00000644110.1:c.2255T>A ENSP00000496392.1:p.Val752Asp
ENST00000265849.11:c.2573T>A ENSP00000265849.7:p.Val858Asp
ENST00000382321.5:c.1370T>A ENSP00000371758.4:p.Val457Asp
ENST00000441476.6:c.2255T>A ENSP00000392843.2:p.Val752Asp
NM_000535.5:c.2573T>A , LRG_161t1:c.2573T>A NP_000526.1:p.Val858Asp
NR_003085.2:n.2655T>A
XM_006715742.2:c.2567T>A XP_006715805.1:p.Val856Asp
XM_006715744.2:c.1640T>A XP_006715807.1:p.Val547Asp
XM_011515427.1:c.2618T>A XP_011513729.1:p.Val873Asp
XM_011515428.1:c.2462T>A XP_011513730.1:p.Val821Asp
XM_011515429.1:c.2255T>A XP_011513731.1:p.Val752Asp
XM_011515430.1:c.2255T>A XP_011513732.1:p.Val752Asp
NM_000535.6:c.2573T>A NP_000526.2:p.Val858Asp
NM_001322003.1:c.2168T>A NP_001308932.1:p.Val723Asp
NM_001322004.1:c.2168T>A NP_001308933.1:p.Val723Asp
NM_001322005.1:c.2168T>A NP_001308934.1:p.Val723Asp
NM_001322006.1:c.2417T>A NP_001308935.1:p.Val806Asp
NM_001322007.1:c.2255T>A NP_001308936.1:p.Val752Asp
NM_001322008.1:c.2255T>A NP_001308937.1:p.Val752Asp
NM_001322009.1:c.2201T>A NP_001308938.1:p.Val734Asp
NM_001322010.1:c.2012T>A NP_001308939.1:p.Val671Asp
NM_001322011.1:c.1640T>A NP_001308940.1:p.Val547Asp
NM_001322012.1:c.1640T>A NP_001308941.1:p.Val547Asp
NM_001322013.1:c.2000T>A NP_001308942.1:p.Val667Asp
NM_001322014.1:c.2606T>A NP_001308943.1:p.Val869Asp
NM_001322015.1:c.2264T>A NP_001308944.1:p.Val755Asp
NR_136154.1:n.2617T>A
XM_006715744.4:c.1640T>A XP_006715807.1:p.Val547Asp
XM_017012342.2:c.1640T>A XP_016867831.1:p.Val547Asp
XM_024446800.1:c.2012T>A XP_024302568.1:p.Val671Asp
NM_000535.7:c.2573T>A MANE Select NP_000526.2:p.Val858Asp
NM_001322003.2:c.2168T>A NP_001308932.1:p.Val723Asp
NM_001322004.2:c.2168T>A NP_001308933.1:p.Val723Asp
NM_001322005.2:c.2168T>A NP_001308934.1:p.Val723Asp
NM_001322006.2:c.2417T>A NP_001308935.1:p.Val806Asp
NM_001322008.2:c.2255T>A NP_001308937.1:p.Val752Asp
NM_001322009.2:c.2201T>A NP_001308938.1:p.Val734Asp
NM_001322010.2:c.2012T>A NP_001308939.1:p.Val671Asp
NM_001322011.2:c.1640T>A NP_001308940.1:p.Val547Asp
NM_001322012.2:c.1640T>A NP_001308941.1:p.Val547Asp
NM_001322013.2:c.2000T>A NP_001308942.1:p.Val667Asp
NM_001322014.2:c.2606T>A NP_001308943.1:p.Val869Asp
NM_001322015.2:c.2264T>A NP_001308944.1:p.Val755Asp
NM_001322007.2:c.2255T>A NP_001308936.1:p.Val752Asp
Search 100 bp 5'
Search 100 bp 3'