Canonical Allele Identifier: CA153227519

Gene: PMS2

Linked Data

• dbSNP Id: rs1805324
• MyVariant Identifiers: chr7:g.6026530C>G (hg19) ; chr7:g.5986899C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986899C>G , CM000669.2:g.5986899C>G	GRCh38
NC_000007.13:g.6026530C>G , CM000669.1:g.6026530C>G	GRCh37
NC_000007.12:g.5993056C>G	NCBI36
NG_008466.1:g.27208G>C , LRG_161:g.27208G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1262G>C	ENSP00000514615.2:n.*1262G>C
ENST00000699840.2:c.1863G>C	ENSP00000514638.2:p.Met621Ile
ENST00000699930.2:c.1758G>C	ENSP00000514695.2:p.Met586Ile
ENST00000406569.8:c.1678+188G>C	ENSP00000514464.1:n.1678+188G>C
ENST00000644110.2:c.*1460G>C	ENSP00000496392.2:n.*1460G>C
ENST00000699752.1:c.1710G>C	ENSP00000514561.1:p.Met570Ile
ENST00000699753.1:c.*1287G>C	ENSP00000514562.1:n.*1287G>C
ENST00000699754.1:c.1668G>C	ENSP00000514563.1:p.Met556Ile
ENST00000699755.1:c.*1265G>C	ENSP00000514564.1:n.*1265G>C
ENST00000699756.1:c.*1453G>C	ENSP00000514565.1:n.*1453G>C
ENST00000699757.1:c.*1123G>C	ENSP00000514566.1:n.*1123G>C
ENST00000699758.1:c.*1123G>C	ENSP00000514567.1:n.*1123G>C
ENST00000699759.1:n.2720G>C
ENST00000699760.1:c.1548G>C	ENSP00000514568.1:p.Met516Ile
ENST00000699761.1:c.1461G>C	ENSP00000514569.1:p.Met487Ile
ENST00000699762.1:c.1293G>C	ENSP00000514570.1:p.Met431Ile
ENST00000699763.1:c.*956G>C	ENSP00000514571.1:n.*956G>C
ENST00000699764.1:c.*184G>C	ENSP00000514572.1:n.*184G>C
ENST00000699765.1:c.*962G>C	ENSP00000514573.1:n.*962G>C
ENST00000699766.1:c.1866G>C	ENSP00000514574.1:p.Met622Ile
ENST00000699767.1:c.1866G>C	ENSP00000514575.1:p.Met622Ile
ENST00000699768.1:c.1866G>C	ENSP00000514576.1:p.Met622Ile
ENST00000699811.1:c.1461G>C	ENSP00000514614.1:p.Met487Ile
ENST00000699813.1:n.1979G>C
ENST00000699814.1:c.1489G>C
ENST00000699815.1:c.*1397G>C	ENSP00000514616.1:n.*1397G>C
ENST00000699816.1:c.*756G>C	ENSP00000514617.1:n.*756G>C
ENST00000699817.1:c.*1460G>C	ENSP00000514618.1:n.*1460G>C
ENST00000699818.1:c.1461G>C	ENSP00000514619.1:p.Met487Ile
ENST00000699819.1:c.*1023G>C	ENSP00000514620.1:n.*1023G>C
ENST00000699820.1:c.1144+2901G>C	ENSP00000514621.1:n.1144+2901G>C
ENST00000699821.1:c.1461G>C	ENSP00000514622.1:p.Met487Ile
ENST00000699822.1:c.*1318G>C	ENSP00000514623.1:n.*1318G>C
ENST00000699823.1:c.1461G>C	ENSP00000514624.1:p.Met487Ile
ENST00000699824.1:c.*1369G>C	ENSP00000514625.1:n.*1369G>C
ENST00000699825.1:c.1305G>C	ENSP00000514626.1:p.Met435Ile
ENST00000699826.1:c.*1265G>C	ENSP00000514627.1:n.*1265G>C
ENST00000699827.1:c.1698G>C	ENSP00000514628.1:p.Met566Ile
ENST00000699828.1:c.*956G>C	ENSP00000514629.1:n.*956G>C
ENST00000699833.1:n.3638G>C
ENST00000699837.1:c.1461G>C	ENSP00000514635.1:p.Met487Ile
ENST00000699838.1:c.*1766G>C	ENSP00000514636.1:n.*1766G>C
ENST00000699839.1:c.2052G>C	ENSP00000514637.1:p.Met684Ile
ENST00000699916.1:c.*1123G>C	ENSP00000514684.1:n.*1123G>C
ENST00000699917.1:c.*1315G>C	ENSP00000514685.1:n.*1315G>C
ENST00000699918.1:c.*1367G>C	ENSP00000514686.1:n.*1367G>C
ENST00000699919.1:c.*1453G>C	ENSP00000514687.1:n.*1453G>C
ENST00000699920.1:c.*1502G>C	ENSP00000514688.1:n.*1502G>C
ENST00000699928.1:c.989-3908G>C	ENSP00000514693.1:n.989-3908G>C
ENST00000699951.1:c.*962G>C	ENSP00000514706.1:n.*962G>C
ENST00000699952.1:c.803+10427G>C	ENSP00000514707.1:n.803+10427G>C
ENST00000265849.12:c.1866G>C MANE Select	ENSP00000265849.7:p.Met622Ile
ENST00000642292.1:c.1461G>C	ENSP00000495524.1:p.Met487Ile
ENST00000642456.1:c.1461G>C	ENSP00000493814.1:p.Met487Ile
ENST00000643595.1:c.*1265G>C	ENSP00000494497.1:n.*1265G>C
ENST00000644110.1:c.1548G>C	ENSP00000496392.1:p.Met516Ile
ENST00000265849.11:c.1866G>C	ENSP00000265849.7:p.Met622Ile
ENST00000382321.5:c.804-3908G>C	ENSP00000371758.4:n.804-3908G>C
ENST00000406569.7:n.1678+188G>C
ENST00000441476.6:c.1548G>C	ENSP00000392843.2:p.Met516Ile
ENST00000469652.1:n.63-3994G>C
NM_000535.5:c.1866G>C , LRG_161t1:c.1866G>C	NP_000526.1:p.Met622Ile
NR_003085.2:n.1948G>C
XM_006715742.2:c.1860G>C	XP_006715805.1:p.Met620Ile
XM_006715744.2:c.933G>C	XP_006715807.1:p.Met311Ile
XM_011515427.1:c.1911G>C	XP_011513729.1:p.Met637Ile
XM_011515428.1:c.1755G>C	XP_011513730.1:p.Met585Ile
XM_011515429.1:c.1548G>C	XP_011513731.1:p.Met516Ile
XM_011515430.1:c.1548G>C	XP_011513732.1:p.Met516Ile
NM_000535.6:c.1866G>C	NP_000526.2:p.Met622Ile
NM_001322003.1:c.1461G>C	NP_001308932.1:p.Met487Ile
NM_001322004.1:c.1461G>C	NP_001308933.1:p.Met487Ile
NM_001322005.1:c.1461G>C	NP_001308934.1:p.Met487Ile
NM_001322006.1:c.1710G>C	NP_001308935.1:p.Met570Ile
NM_001322007.1:c.1548G>C	NP_001308936.1:p.Met516Ile
NM_001322008.1:c.1548G>C	NP_001308937.1:p.Met516Ile
NM_001322009.1:c.1461G>C	NP_001308938.1:p.Met487Ile
NM_001322010.1:c.1305G>C	NP_001308939.1:p.Met435Ile
NM_001322011.1:c.933G>C	NP_001308940.1:p.Met311Ile
NM_001322012.1:c.933G>C	NP_001308941.1:p.Met311Ile
NM_001322013.1:c.1293G>C	NP_001308942.1:p.Met431Ile
NM_001322014.1:c.1866G>C	NP_001308943.1:p.Met622Ile
NM_001322015.1:c.1557G>C	NP_001308944.1:p.Met519Ile
NR_136154.1:n.1953G>C
XM_006715744.4:c.933G>C	XP_006715807.1:p.Met311Ile
XM_017012342.2:c.933G>C	XP_016867831.1:p.Met311Ile
XM_024446800.1:c.1305G>C	XP_024302568.1:p.Met435Ile
NM_000535.7:c.1866G>C MANE Select	NP_000526.2:p.Met622Ile
NM_001322003.2:c.1461G>C	NP_001308932.1:p.Met487Ile
NM_001322004.2:c.1461G>C	NP_001308933.1:p.Met487Ile
NM_001322005.2:c.1461G>C	NP_001308934.1:p.Met487Ile
NM_001322006.2:c.1710G>C	NP_001308935.1:p.Met570Ile
NM_001322008.2:c.1548G>C	NP_001308937.1:p.Met516Ile
NM_001322009.2:c.1461G>C	NP_001308938.1:p.Met487Ile
NM_001322010.2:c.1305G>C	NP_001308939.1:p.Met435Ile
NM_001322011.2:c.933G>C	NP_001308940.1:p.Met311Ile
NM_001322012.2:c.933G>C	NP_001308941.1:p.Met311Ile
NM_001322013.2:c.1293G>C	NP_001308942.1:p.Met431Ile
NM_001322014.2:c.1866G>C	NP_001308943.1:p.Met622Ile
NM_001322015.2:c.1557G>C	NP_001308944.1:p.Met519Ile
NM_001322007.2:c.1548G>C	NP_001308936.1:p.Met516Ile