Canonical Allele Identifier: CA366735808

Gene: PMS2

Linked Data

• dbSNP Id: rs766565506
• MyVariant Identifiers: chr7:g.6017297C>A (hg19) ; chr7:g.5977666C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977666C>A , CM000669.2:g.5977666C>A	GRCh38
NC_000007.13:g.6017297C>A , CM000669.1:g.6017297C>A	GRCh37
NC_000007.12:g.5983823C>A	NCBI36
NG_008466.1:g.36441G>T , LRG_161:g.36441G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1763G>T	ENSP00000514615.2:n.*1763G>T
ENST00000699840.2:c.2364G>T	ENSP00000514638.2:p.Met788Ile
ENST00000699930.2:c.2259G>T	ENSP00000514695.2:p.Met753Ile
ENST00000406569.8:c.1727G>T	ENSP00000514464.1:n.1727G>T
ENST00000644110.2:c.*1961G>T	ENSP00000496392.2:n.*1961G>T
ENST00000699752.1:c.2211G>T	ENSP00000514561.1:p.Met737Ile
ENST00000699753.1:c.*1788G>T	ENSP00000514562.1:n.*1788G>T
ENST00000699754.1:c.2169G>T	ENSP00000514563.1:p.Met723Ile
ENST00000699755.1:c.*1766G>T	ENSP00000514564.1:n.*1766G>T
ENST00000699756.1:c.*1954G>T	ENSP00000514565.1:n.*1954G>T
ENST00000699757.1:c.*1624G>T	ENSP00000514566.1:n.*1624G>T
ENST00000699758.1:c.*1624G>T	ENSP00000514567.1:n.*1624G>T
ENST00000699759.1:n.3221G>T
ENST00000699760.1:c.2049G>T	ENSP00000514568.1:p.Met683Ile
ENST00000699761.1:c.1962G>T	ENSP00000514569.1:p.Met654Ile
ENST00000699762.1:c.1794G>T	ENSP00000514570.1:p.Met598Ile
ENST00000699763.1:c.*1457G>T	ENSP00000514571.1:n.*1457G>T
ENST00000699764.1:c.*685G>T	ENSP00000514572.1:n.*685G>T
ENST00000699765.1:c.*1362G>T	ENSP00000514573.1:n.*1362G>T
ENST00000699766.1:c.2400G>T	ENSP00000514574.1:p.Met800Ile
ENST00000699767.1:c.*8G>T	ENSP00000514575.1:n.*8G>T
ENST00000699768.1:c.2223G>T	ENSP00000514576.1:p.Met741Ile
ENST00000699811.1:c.1962G>T	ENSP00000514614.1:p.Met654Ile
ENST00000699813.1:n.2480G>T
ENST00000699814.1:c.1990G>T
ENST00000699815.1:c.*1898G>T	ENSP00000514616.1:n.*1898G>T
ENST00000699816.1:c.*1257G>T	ENSP00000514617.1:n.*1257G>T
ENST00000699817.1:c.*1961G>T	ENSP00000514618.1:n.*1961G>T
ENST00000699818.1:c.1962G>T	ENSP00000514619.1:p.Met654Ile
ENST00000699819.1:c.*1524G>T	ENSP00000514620.1:n.*1524G>T
ENST00000699820.1:c.*305G>T	ENSP00000514621.1:n.*305G>T
ENST00000699821.1:c.1995G>T	ENSP00000514622.1:p.Met665Ile
ENST00000699822.1:c.*1819G>T	ENSP00000514623.1:n.*1819G>T
ENST00000699823.1:c.1962G>T	ENSP00000514624.1:p.Met654Ile
ENST00000699824.1:c.*1870G>T	ENSP00000514625.1:n.*1870G>T
ENST00000699825.1:c.1806G>T	ENSP00000514626.1:p.Met602Ile
ENST00000699826.1:c.*1766G>T	ENSP00000514627.1:n.*1766G>T
ENST00000699827.1:c.2199G>T	ENSP00000514628.1:p.Met733Ile
ENST00000699828.1:c.*1457G>T	ENSP00000514629.1:n.*1457G>T
ENST00000699833.1:n.4139G>T
ENST00000699837.1:c.1962G>T	ENSP00000514635.1:p.Met654Ile
ENST00000699838.1:c.*2267G>T	ENSP00000514636.1:n.*2267G>T
ENST00000699839.1:c.2553G>T	ENSP00000514637.1:p.Met851Ile
ENST00000699916.1:c.*1624G>T	ENSP00000514684.1:n.*1624G>T
ENST00000699917.1:c.*1816G>T	ENSP00000514685.1:n.*1816G>T
ENST00000699918.1:c.*1868G>T	ENSP00000514686.1:n.*1868G>T
ENST00000699919.1:c.*1954G>T	ENSP00000514687.1:n.*1954G>T
ENST00000699920.1:c.*2003G>T	ENSP00000514688.1:n.*2003G>T
ENST00000699928.1:c.*305G>T	ENSP00000514693.1:n.*305G>T
ENST00000699951.1:c.*1420G>T	ENSP00000514706.1:n.*1420G>T
ENST00000699952.1:c.804-4124G>T	ENSP00000514707.1:n.804-4124G>T
ENST00000265849.12:c.2367G>T MANE Select	ENSP00000265849.7:p.Met789Ile
ENST00000642292.1:c.1962G>T	ENSP00000495524.1:p.Met654Ile
ENST00000642456.1:c.1962G>T	ENSP00000493814.1:p.Met654Ile
ENST00000643595.1:c.*1766G>T	ENSP00000494497.1:n.*1766G>T
ENST00000644110.1:c.2049G>T	ENSP00000496392.1:p.Met683Ile
ENST00000265849.11:c.2367G>T	ENSP00000265849.7:p.Met789Ile
ENST00000382321.5:c.1164G>T	ENSP00000371758.4:p.Met388Ile
ENST00000441476.6:c.2049G>T	ENSP00000392843.2:p.Met683Ile
NM_000535.5:c.2367G>T , LRG_161t1:c.2367G>T	NP_000526.1:p.Met789Ile
NR_003085.2:n.2449G>T
XM_006715742.2:c.2361G>T	XP_006715805.1:p.Met787Ile
XM_006715744.2:c.1434G>T	XP_006715807.1:p.Met478Ile
XM_011515427.1:c.2412G>T	XP_011513729.1:p.Met804Ile
XM_011515428.1:c.2256G>T	XP_011513730.1:p.Met752Ile
XM_011515429.1:c.2049G>T	XP_011513731.1:p.Met683Ile
XM_011515430.1:c.2049G>T	XP_011513732.1:p.Met683Ile
NM_000535.6:c.2367G>T	NP_000526.2:p.Met789Ile
NM_001322003.1:c.1962G>T	NP_001308932.1:p.Met654Ile
NM_001322004.1:c.1962G>T	NP_001308933.1:p.Met654Ile
NM_001322005.1:c.1962G>T	NP_001308934.1:p.Met654Ile
NM_001322006.1:c.2211G>T	NP_001308935.1:p.Met737Ile
NM_001322007.1:c.2049G>T	NP_001308936.1:p.Met683Ile
NM_001322008.1:c.2049G>T	NP_001308937.1:p.Met683Ile
NM_001322009.1:c.1995G>T	NP_001308938.1:p.Met665Ile
NM_001322010.1:c.1806G>T	NP_001308939.1:p.Met602Ile
NM_001322011.1:c.1434G>T	NP_001308940.1:p.Met478Ile
NM_001322012.1:c.1434G>T	NP_001308941.1:p.Met478Ile
NM_001322013.1:c.1794G>T	NP_001308942.1:p.Met598Ile
NM_001322014.1:c.2400G>T	NP_001308943.1:p.Met800Ile
NM_001322015.1:c.2058G>T	NP_001308944.1:p.Met686Ile
NR_136154.1:n.2411G>T
XM_006715744.4:c.1434G>T	XP_006715807.1:p.Met478Ile
XM_017012342.2:c.1434G>T	XP_016867831.1:p.Met478Ile
XM_024446800.1:c.1806G>T	XP_024302568.1:p.Met602Ile
NM_000535.7:c.2367G>T MANE Select	NP_000526.2:p.Met789Ile
NM_001322003.2:c.1962G>T	NP_001308932.1:p.Met654Ile
NM_001322004.2:c.1962G>T	NP_001308933.1:p.Met654Ile
NM_001322005.2:c.1962G>T	NP_001308934.1:p.Met654Ile
NM_001322006.2:c.2211G>T	NP_001308935.1:p.Met737Ile
NM_001322008.2:c.2049G>T	NP_001308937.1:p.Met683Ile
NM_001322009.2:c.1995G>T	NP_001308938.1:p.Met665Ile
NM_001322010.2:c.1806G>T	NP_001308939.1:p.Met602Ile
NM_001322011.2:c.1434G>T	NP_001308940.1:p.Met478Ile
NM_001322012.2:c.1434G>T	NP_001308941.1:p.Met478Ile
NM_001322013.2:c.1794G>T	NP_001308942.1:p.Met598Ile
NM_001322014.2:c.2400G>T	NP_001308943.1:p.Met800Ile
NM_001322015.2:c.2058G>T	NP_001308944.1:p.Met686Ile
NM_001322007.2:c.2049G>T	NP_001308936.1:p.Met683Ile