Canonical Allele Identifier: CA366735871

Gene: PMS2

Linked Data

• dbSNP Id: rs1554293920
• MyVariant Identifiers: chr7:g.6017311C>G (hg19) ; chr7:g.5977680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977680C>G , CM000669.2:g.5977680C>G	GRCh38
NC_000007.13:g.6017311C>G , CM000669.1:g.6017311C>G	GRCh37
NC_000007.12:g.5983837C>G	NCBI36
NG_008466.1:g.36427G>C , LRG_161:g.36427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1749G>C	ENSP00000514615.2:n.*1749G>C
ENST00000699840.2:c.2350G>C	ENSP00000514638.2:p.Glu784Gln
ENST00000699930.2:c.2245G>C	ENSP00000514695.2:p.Glu749Gln
ENST00000406569.8:c.1713G>C	ENSP00000514464.1:p.Met571Ile
ENST00000644110.2:c.*1947G>C	ENSP00000496392.2:n.*1947G>C
ENST00000699752.1:c.2197G>C	ENSP00000514561.1:p.Glu733Gln
ENST00000699753.1:c.*1774G>C	ENSP00000514562.1:n.*1774G>C
ENST00000699754.1:c.2155G>C	ENSP00000514563.1:p.Glu719Gln
ENST00000699755.1:c.*1752G>C	ENSP00000514564.1:n.*1752G>C
ENST00000699756.1:c.*1940G>C	ENSP00000514565.1:n.*1940G>C
ENST00000699757.1:c.*1610G>C	ENSP00000514566.1:n.*1610G>C
ENST00000699758.1:c.*1610G>C	ENSP00000514567.1:n.*1610G>C
ENST00000699759.1:n.3207G>C
ENST00000699760.1:c.2035G>C	ENSP00000514568.1:p.Glu679Gln
ENST00000699761.1:c.1948G>C	ENSP00000514569.1:p.Glu650Gln
ENST00000699762.1:c.1780G>C	ENSP00000514570.1:p.Glu594Gln
ENST00000699763.1:c.*1443G>C	ENSP00000514571.1:n.*1443G>C
ENST00000699764.1:c.*671G>C	ENSP00000514572.1:n.*671G>C
ENST00000699765.1:c.*1348G>C	ENSP00000514573.1:n.*1348G>C
ENST00000699766.1:c.2386G>C	ENSP00000514574.1:p.Glu796Gln
ENST00000699767.1:c.2310G>C	ENSP00000514575.1:p.Met770Ile
ENST00000699768.1:c.2209G>C	ENSP00000514576.1:p.Glu737Gln
ENST00000699811.1:c.1948G>C	ENSP00000514614.1:p.Glu650Gln
ENST00000699813.1:n.2466G>C
ENST00000699814.1:c.1976G>C
ENST00000699815.1:c.*1884G>C	ENSP00000514616.1:n.*1884G>C
ENST00000699816.1:c.*1243G>C	ENSP00000514617.1:n.*1243G>C
ENST00000699817.1:c.*1947G>C	ENSP00000514618.1:n.*1947G>C
ENST00000699818.1:c.1948G>C	ENSP00000514619.1:p.Glu650Gln
ENST00000699819.1:c.*1510G>C	ENSP00000514620.1:n.*1510G>C
ENST00000699820.1:c.*291G>C	ENSP00000514621.1:n.*291G>C
ENST00000699821.1:c.1981G>C	ENSP00000514622.1:p.Glu661Gln
ENST00000699822.1:c.*1805G>C	ENSP00000514623.1:n.*1805G>C
ENST00000699823.1:c.1948G>C	ENSP00000514624.1:p.Glu650Gln
ENST00000699824.1:c.*1856G>C	ENSP00000514625.1:n.*1856G>C
ENST00000699825.1:c.1792G>C	ENSP00000514626.1:p.Glu598Gln
ENST00000699826.1:c.*1752G>C	ENSP00000514627.1:n.*1752G>C
ENST00000699827.1:c.2185G>C	ENSP00000514628.1:p.Glu729Gln
ENST00000699828.1:c.*1443G>C	ENSP00000514629.1:n.*1443G>C
ENST00000699833.1:n.4125G>C
ENST00000699837.1:c.1948G>C	ENSP00000514635.1:p.Glu650Gln
ENST00000699838.1:c.*2253G>C	ENSP00000514636.1:n.*2253G>C
ENST00000699839.1:c.2539G>C	ENSP00000514637.1:p.Glu847Gln
ENST00000699916.1:c.*1610G>C	ENSP00000514684.1:n.*1610G>C
ENST00000699917.1:c.*1802G>C	ENSP00000514685.1:n.*1802G>C
ENST00000699918.1:c.*1854G>C	ENSP00000514686.1:n.*1854G>C
ENST00000699919.1:c.*1940G>C	ENSP00000514687.1:n.*1940G>C
ENST00000699920.1:c.*1989G>C	ENSP00000514688.1:n.*1989G>C
ENST00000699928.1:c.*291G>C	ENSP00000514693.1:n.*291G>C
ENST00000699951.1:c.*1406G>C	ENSP00000514706.1:n.*1406G>C
ENST00000699952.1:c.804-4138G>C	ENSP00000514707.1:n.804-4138G>C
ENST00000265849.12:c.2353G>C MANE Select	ENSP00000265849.7:p.Glu785Gln
ENST00000642292.1:c.1948G>C	ENSP00000495524.1:p.Glu650Gln
ENST00000642456.1:c.1948G>C	ENSP00000493814.1:p.Glu650Gln
ENST00000643595.1:c.*1752G>C	ENSP00000494497.1:n.*1752G>C
ENST00000644110.1:c.2035G>C	ENSP00000496392.1:p.Glu679Gln
ENST00000265849.11:c.2353G>C	ENSP00000265849.7:p.Glu785Gln
ENST00000382321.5:c.1150G>C	ENSP00000371758.4:p.Glu384Gln
ENST00000406569.7:n.1713G>C
ENST00000441476.6:c.2035G>C	ENSP00000392843.2:p.Glu679Gln
NM_000535.5:c.2353G>C , LRG_161t1:c.2353G>C	NP_000526.1:p.Glu785Gln
NR_003085.2:n.2435G>C
XM_006715742.2:c.2347G>C	XP_006715805.1:p.Glu783Gln
XM_006715744.2:c.1420G>C	XP_006715807.1:p.Glu474Gln
XM_011515427.1:c.2398G>C	XP_011513729.1:p.Glu800Gln
XM_011515428.1:c.2242G>C	XP_011513730.1:p.Glu748Gln
XM_011515429.1:c.2035G>C	XP_011513731.1:p.Glu679Gln
XM_011515430.1:c.2035G>C	XP_011513732.1:p.Glu679Gln
NM_000535.6:c.2353G>C	NP_000526.2:p.Glu785Gln
NM_001322003.1:c.1948G>C	NP_001308932.1:p.Glu650Gln
NM_001322004.1:c.1948G>C	NP_001308933.1:p.Glu650Gln
NM_001322005.1:c.1948G>C	NP_001308934.1:p.Glu650Gln
NM_001322006.1:c.2197G>C	NP_001308935.1:p.Glu733Gln
NM_001322007.1:c.2035G>C	NP_001308936.1:p.Glu679Gln
NM_001322008.1:c.2035G>C	NP_001308937.1:p.Glu679Gln
NM_001322009.1:c.1981G>C	NP_001308938.1:p.Glu661Gln
NM_001322010.1:c.1792G>C	NP_001308939.1:p.Glu598Gln
NM_001322011.1:c.1420G>C	NP_001308940.1:p.Glu474Gln
NM_001322012.1:c.1420G>C	NP_001308941.1:p.Glu474Gln
NM_001322013.1:c.1780G>C	NP_001308942.1:p.Glu594Gln
NM_001322014.1:c.2386G>C	NP_001308943.1:p.Glu796Gln
NM_001322015.1:c.2044G>C	NP_001308944.1:p.Glu682Gln
NR_136154.1:n.2397G>C
XM_006715744.4:c.1420G>C	XP_006715807.1:p.Glu474Gln
XM_017012342.2:c.1420G>C	XP_016867831.1:p.Glu474Gln
XM_024446800.1:c.1792G>C	XP_024302568.1:p.Glu598Gln
NM_000535.7:c.2353G>C MANE Select	NP_000526.2:p.Glu785Gln
NM_001322003.2:c.1948G>C	NP_001308932.1:p.Glu650Gln
NM_001322004.2:c.1948G>C	NP_001308933.1:p.Glu650Gln
NM_001322005.2:c.1948G>C	NP_001308934.1:p.Glu650Gln
NM_001322006.2:c.2197G>C	NP_001308935.1:p.Glu733Gln
NM_001322008.2:c.2035G>C	NP_001308937.1:p.Glu679Gln
NM_001322009.2:c.1981G>C	NP_001308938.1:p.Glu661Gln
NM_001322010.2:c.1792G>C	NP_001308939.1:p.Glu598Gln
NM_001322011.2:c.1420G>C	NP_001308940.1:p.Glu474Gln
NM_001322012.2:c.1420G>C	NP_001308941.1:p.Glu474Gln
NM_001322013.2:c.1780G>C	NP_001308942.1:p.Glu594Gln
NM_001322014.2:c.2386G>C	NP_001308943.1:p.Glu796Gln
NM_001322015.2:c.2044G>C	NP_001308944.1:p.Glu682Gln
NM_001322007.2:c.2035G>C	NP_001308936.1:p.Glu679Gln