Canonical Allele Identifier: CA366735717

Gene: PMS2

Linked Data

• dbSNP Id: rs1554293841
• MyVariant Identifiers: chr7:g.6017273C>G (hg19) ; chr7:g.5977642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977642C>G , CM000669.2:g.5977642C>G	GRCh38
NC_000007.13:g.6017273C>G , CM000669.1:g.6017273C>G	GRCh37
NC_000007.12:g.5983799C>G	NCBI36
NG_008466.1:g.36465G>C , LRG_161:g.36465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1787G>C	ENSP00000514615.2:n.*1787G>C
ENST00000699840.2:c.2388G>C	ENSP00000514638.2:p.Met796Ile
ENST00000699930.2:c.2283G>C	ENSP00000514695.2:p.Met761Ile
ENST00000406569.8:c.1751G>C	ENSP00000514464.1:n.1751G>C
ENST00000644110.2:c.*1985G>C	ENSP00000496392.2:n.*1985G>C
ENST00000699752.1:c.2235G>C	ENSP00000514561.1:p.Met745Ile
ENST00000699753.1:c.*1812G>C	ENSP00000514562.1:n.*1812G>C
ENST00000699754.1:c.2193G>C	ENSP00000514563.1:p.Met731Ile
ENST00000699755.1:c.*1790G>C	ENSP00000514564.1:n.*1790G>C
ENST00000699756.1:c.*1978G>C	ENSP00000514565.1:n.*1978G>C
ENST00000699757.1:c.*1648G>C	ENSP00000514566.1:n.*1648G>C
ENST00000699758.1:c.*1648G>C	ENSP00000514567.1:n.*1648G>C
ENST00000699759.1:n.3245G>C
ENST00000699760.1:c.2073G>C	ENSP00000514568.1:p.Met691Ile
ENST00000699761.1:c.1986G>C	ENSP00000514569.1:p.Met662Ile
ENST00000699762.1:c.1818G>C	ENSP00000514570.1:p.Met606Ile
ENST00000699763.1:c.*1481G>C	ENSP00000514571.1:n.*1481G>C
ENST00000699764.1:c.*709G>C	ENSP00000514572.1:n.*709G>C
ENST00000699765.1:c.*1386G>C	ENSP00000514573.1:n.*1386G>C
ENST00000699766.1:c.2424G>C	ENSP00000514574.1:p.Met808Ile
ENST00000699767.1:c.*32G>C	ENSP00000514575.1:n.*32G>C
ENST00000699768.1:c.2247G>C	ENSP00000514576.1:p.Met749Ile
ENST00000699811.1:c.1986G>C	ENSP00000514614.1:p.Met662Ile
ENST00000699813.1:n.2504G>C
ENST00000699814.1:c.2014G>C
ENST00000699815.1:c.*1922G>C	ENSP00000514616.1:n.*1922G>C
ENST00000699816.1:c.*1281G>C	ENSP00000514617.1:n.*1281G>C
ENST00000699817.1:c.*1985G>C	ENSP00000514618.1:n.*1985G>C
ENST00000699818.1:c.1986G>C	ENSP00000514619.1:p.Met662Ile
ENST00000699819.1:c.*1548G>C	ENSP00000514620.1:n.*1548G>C
ENST00000699820.1:c.*329G>C	ENSP00000514621.1:n.*329G>C
ENST00000699821.1:c.2019G>C	ENSP00000514622.1:p.Met673Ile
ENST00000699822.1:c.*1843G>C	ENSP00000514623.1:n.*1843G>C
ENST00000699823.1:c.1986G>C	ENSP00000514624.1:p.Met662Ile
ENST00000699824.1:c.*1894G>C	ENSP00000514625.1:n.*1894G>C
ENST00000699825.1:c.1830G>C	ENSP00000514626.1:p.Met610Ile
ENST00000699826.1:c.*1790G>C	ENSP00000514627.1:n.*1790G>C
ENST00000699827.1:c.2223G>C	ENSP00000514628.1:p.Met741Ile
ENST00000699828.1:c.*1481G>C	ENSP00000514629.1:n.*1481G>C
ENST00000699833.1:n.4163G>C
ENST00000699837.1:c.1986G>C	ENSP00000514635.1:p.Met662Ile
ENST00000699838.1:c.*2291G>C	ENSP00000514636.1:n.*2291G>C
ENST00000699839.1:c.2577G>C	ENSP00000514637.1:p.Met859Ile
ENST00000699916.1:c.*1648G>C	ENSP00000514684.1:n.*1648G>C
ENST00000699917.1:c.*1840G>C	ENSP00000514685.1:n.*1840G>C
ENST00000699918.1:c.*1892G>C	ENSP00000514686.1:n.*1892G>C
ENST00000699919.1:c.*1978G>C	ENSP00000514687.1:n.*1978G>C
ENST00000699920.1:c.*2027G>C	ENSP00000514688.1:n.*2027G>C
ENST00000699928.1:c.*329G>C	ENSP00000514693.1:n.*329G>C
ENST00000699951.1:c.*1444G>C	ENSP00000514706.1:n.*1444G>C
ENST00000699952.1:c.804-4100G>C	ENSP00000514707.1:n.804-4100G>C
ENST00000265849.12:c.2391G>C MANE Select	ENSP00000265849.7:p.Met797Ile
ENST00000642292.1:c.1986G>C	ENSP00000495524.1:p.Met662Ile
ENST00000642456.1:c.1986G>C	ENSP00000493814.1:p.Met662Ile
ENST00000643595.1:c.*1790G>C	ENSP00000494497.1:n.*1790G>C
ENST00000644110.1:c.2073G>C	ENSP00000496392.1:p.Met691Ile
ENST00000265849.11:c.2391G>C	ENSP00000265849.7:p.Met797Ile
ENST00000382321.5:c.1188G>C	ENSP00000371758.4:p.Met396Ile
ENST00000441476.6:c.2073G>C	ENSP00000392843.2:p.Met691Ile
NM_000535.5:c.2391G>C , LRG_161t1:c.2391G>C	NP_000526.1:p.Met797Ile
NR_003085.2:n.2473G>C
XM_006715742.2:c.2385G>C	XP_006715805.1:p.Met795Ile
XM_006715744.2:c.1458G>C	XP_006715807.1:p.Met486Ile
XM_011515427.1:c.2436G>C	XP_011513729.1:p.Met812Ile
XM_011515428.1:c.2280G>C	XP_011513730.1:p.Met760Ile
XM_011515429.1:c.2073G>C	XP_011513731.1:p.Met691Ile
XM_011515430.1:c.2073G>C	XP_011513732.1:p.Met691Ile
NM_000535.6:c.2391G>C	NP_000526.2:p.Met797Ile
NM_001322003.1:c.1986G>C	NP_001308932.1:p.Met662Ile
NM_001322004.1:c.1986G>C	NP_001308933.1:p.Met662Ile
NM_001322005.1:c.1986G>C	NP_001308934.1:p.Met662Ile
NM_001322006.1:c.2235G>C	NP_001308935.1:p.Met745Ile
NM_001322007.1:c.2073G>C	NP_001308936.1:p.Met691Ile
NM_001322008.1:c.2073G>C	NP_001308937.1:p.Met691Ile
NM_001322009.1:c.2019G>C	NP_001308938.1:p.Met673Ile
NM_001322010.1:c.1830G>C	NP_001308939.1:p.Met610Ile
NM_001322011.1:c.1458G>C	NP_001308940.1:p.Met486Ile
NM_001322012.1:c.1458G>C	NP_001308941.1:p.Met486Ile
NM_001322013.1:c.1818G>C	NP_001308942.1:p.Met606Ile
NM_001322014.1:c.2424G>C	NP_001308943.1:p.Met808Ile
NM_001322015.1:c.2082G>C	NP_001308944.1:p.Met694Ile
NR_136154.1:n.2435G>C
XM_006715744.4:c.1458G>C	XP_006715807.1:p.Met486Ile
XM_017012342.2:c.1458G>C	XP_016867831.1:p.Met486Ile
XM_024446800.1:c.1830G>C	XP_024302568.1:p.Met610Ile
NM_000535.7:c.2391G>C MANE Select	NP_000526.2:p.Met797Ile
NM_001322003.2:c.1986G>C	NP_001308932.1:p.Met662Ile
NM_001322004.2:c.1986G>C	NP_001308933.1:p.Met662Ile
NM_001322005.2:c.1986G>C	NP_001308934.1:p.Met662Ile
NM_001322006.2:c.2235G>C	NP_001308935.1:p.Met745Ile
NM_001322008.2:c.2073G>C	NP_001308937.1:p.Met691Ile
NM_001322009.2:c.2019G>C	NP_001308938.1:p.Met673Ile
NM_001322010.2:c.1830G>C	NP_001308939.1:p.Met610Ile
NM_001322011.2:c.1458G>C	NP_001308940.1:p.Met486Ile
NM_001322012.2:c.1458G>C	NP_001308941.1:p.Met486Ile
NM_001322013.2:c.1818G>C	NP_001308942.1:p.Met606Ile
NM_001322014.2:c.2424G>C	NP_001308943.1:p.Met808Ile
NM_001322015.2:c.2082G>C	NP_001308944.1:p.Met694Ile
NM_001322007.2:c.2073G>C	NP_001308936.1:p.Met691Ile