Canonical Allele Identifier: CA453642415

Gene: PMS2

Linked Data

• ClinVar Variation Id: 821068
• ClinVar RCV Id: RCV001015129 ; RCV001435120
• dbSNP Id: rs1419416825
• MyVariant Identifiers: chr7:g.6017309T>C (hg19) ; chr7:g.5977678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977678T>C , CM000669.2:g.5977678T>C	GRCh38
NC_000007.13:g.6017309T>C , CM000669.1:g.6017309T>C	GRCh37
NC_000007.12:g.5983835T>C	NCBI36
NG_008466.1:g.36429A>G , LRG_161:g.36429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1751A>G	ENSP00000514615.2:n.*1751A>G
ENST00000699840.2:c.2352A>G	ENSP00000514638.2:p.Glu784=
ENST00000699930.2:c.2247A>G	ENSP00000514695.2:p.Glu749=
ENST00000406569.8:c.1715A>G	ENSP00000514464.1:p.Asn572Ser
ENST00000644110.2:c.*1949A>G	ENSP00000496392.2:n.*1949A>G
ENST00000699752.1:c.2199A>G	ENSP00000514561.1:p.Glu733=
ENST00000699753.1:c.*1776A>G	ENSP00000514562.1:n.*1776A>G
ENST00000699754.1:c.2157A>G	ENSP00000514563.1:p.Glu719=
ENST00000699755.1:c.*1754A>G	ENSP00000514564.1:n.*1754A>G
ENST00000699756.1:c.*1942A>G	ENSP00000514565.1:n.*1942A>G
ENST00000699757.1:c.*1612A>G	ENSP00000514566.1:n.*1612A>G
ENST00000699758.1:c.*1612A>G	ENSP00000514567.1:n.*1612A>G
ENST00000699759.1:n.3209A>G
ENST00000699760.1:c.2037A>G	ENSP00000514568.1:p.Glu679=
ENST00000699761.1:c.1950A>G	ENSP00000514569.1:p.Glu650=
ENST00000699762.1:c.1782A>G	ENSP00000514570.1:p.Glu594=
ENST00000699763.1:c.*1445A>G	ENSP00000514571.1:n.*1445A>G
ENST00000699764.1:c.*673A>G	ENSP00000514572.1:n.*673A>G
ENST00000699765.1:c.*1350A>G	ENSP00000514573.1:n.*1350A>G
ENST00000699766.1:c.2388A>G	ENSP00000514574.1:p.Glu796=
ENST00000699767.1:c.2312A>G	ENSP00000514575.1:p.Asn771Ser
ENST00000699768.1:c.2211A>G	ENSP00000514576.1:p.Glu737=
ENST00000699811.1:c.1950A>G	ENSP00000514614.1:p.Glu650=
ENST00000699813.1:n.2468A>G
ENST00000699814.1:c.1978A>G
ENST00000699815.1:c.*1886A>G	ENSP00000514616.1:n.*1886A>G
ENST00000699816.1:c.*1245A>G	ENSP00000514617.1:n.*1245A>G
ENST00000699817.1:c.*1949A>G	ENSP00000514618.1:n.*1949A>G
ENST00000699818.1:c.1950A>G	ENSP00000514619.1:p.Glu650=
ENST00000699819.1:c.*1512A>G	ENSP00000514620.1:n.*1512A>G
ENST00000699820.1:c.*293A>G	ENSP00000514621.1:n.*293A>G
ENST00000699821.1:c.1983A>G	ENSP00000514622.1:p.Glu661=
ENST00000699822.1:c.*1807A>G	ENSP00000514623.1:n.*1807A>G
ENST00000699823.1:c.1950A>G	ENSP00000514624.1:p.Glu650=
ENST00000699824.1:c.*1858A>G	ENSP00000514625.1:n.*1858A>G
ENST00000699825.1:c.1794A>G	ENSP00000514626.1:p.Glu598=
ENST00000699826.1:c.*1754A>G	ENSP00000514627.1:n.*1754A>G
ENST00000699827.1:c.2187A>G	ENSP00000514628.1:p.Glu729=
ENST00000699828.1:c.*1445A>G	ENSP00000514629.1:n.*1445A>G
ENST00000699833.1:n.4127A>G
ENST00000699837.1:c.1950A>G	ENSP00000514635.1:p.Glu650=
ENST00000699838.1:c.*2255A>G	ENSP00000514636.1:n.*2255A>G
ENST00000699839.1:c.2541A>G	ENSP00000514637.1:p.Glu847=
ENST00000699916.1:c.*1612A>G	ENSP00000514684.1:n.*1612A>G
ENST00000699917.1:c.*1804A>G	ENSP00000514685.1:n.*1804A>G
ENST00000699918.1:c.*1856A>G	ENSP00000514686.1:n.*1856A>G
ENST00000699919.1:c.*1942A>G	ENSP00000514687.1:n.*1942A>G
ENST00000699920.1:c.*1991A>G	ENSP00000514688.1:n.*1991A>G
ENST00000699928.1:c.*293A>G	ENSP00000514693.1:n.*293A>G
ENST00000699951.1:c.*1408A>G	ENSP00000514706.1:n.*1408A>G
ENST00000699952.1:c.804-4136A>G	ENSP00000514707.1:n.804-4136A>G
ENST00000265849.12:c.2355A>G MANE Select	ENSP00000265849.7:p.Glu785=
ENST00000642292.1:c.1950A>G	ENSP00000495524.1:p.Glu650=
ENST00000642456.1:c.1950A>G	ENSP00000493814.1:p.Glu650=
ENST00000643595.1:c.*1754A>G	ENSP00000494497.1:n.*1754A>G
ENST00000644110.1:c.2037A>G	ENSP00000496392.1:p.Glu679=
ENST00000265849.11:c.2355A>G	ENSP00000265849.7:p.Glu785=
ENST00000382321.5:c.1152A>G	ENSP00000371758.4:p.Glu384=
ENST00000406569.7:n.1715A>G
ENST00000441476.6:c.2037A>G	ENSP00000392843.2:p.Glu679=
NM_000535.5:c.2355A>G , LRG_161t1:c.2355A>G	NP_000526.1:p.Glu785=
NR_003085.2:n.2437A>G
XM_006715742.2:c.2349A>G	XP_006715805.1:p.Glu783=
XM_006715744.2:c.1422A>G	XP_006715807.1:p.Glu474=
XM_011515427.1:c.2400A>G	XP_011513729.1:p.Glu800=
XM_011515428.1:c.2244A>G	XP_011513730.1:p.Glu748=
XM_011515429.1:c.2037A>G	XP_011513731.1:p.Glu679=
XM_011515430.1:c.2037A>G	XP_011513732.1:p.Glu679=
NM_000535.6:c.2355A>G	NP_000526.2:p.Glu785=
NM_001322003.1:c.1950A>G	NP_001308932.1:p.Glu650=
NM_001322004.1:c.1950A>G	NP_001308933.1:p.Glu650=
NM_001322005.1:c.1950A>G	NP_001308934.1:p.Glu650=
NM_001322006.1:c.2199A>G	NP_001308935.1:p.Glu733=
NM_001322007.1:c.2037A>G	NP_001308936.1:p.Glu679=
NM_001322008.1:c.2037A>G	NP_001308937.1:p.Glu679=
NM_001322009.1:c.1983A>G	NP_001308938.1:p.Glu661=
NM_001322010.1:c.1794A>G	NP_001308939.1:p.Glu598=
NM_001322011.1:c.1422A>G	NP_001308940.1:p.Glu474=
NM_001322012.1:c.1422A>G	NP_001308941.1:p.Glu474=
NM_001322013.1:c.1782A>G	NP_001308942.1:p.Glu594=
NM_001322014.1:c.2388A>G	NP_001308943.1:p.Glu796=
NM_001322015.1:c.2046A>G	NP_001308944.1:p.Glu682=
NR_136154.1:n.2399A>G
XM_006715744.4:c.1422A>G	XP_006715807.1:p.Glu474=
XM_017012342.2:c.1422A>G	XP_016867831.1:p.Glu474=
XM_024446800.1:c.1794A>G	XP_024302568.1:p.Glu598=
NM_000535.7:c.2355A>G MANE Select	NP_000526.2:p.Glu785=
NM_001322003.2:c.1950A>G	NP_001308932.1:p.Glu650=
NM_001322004.2:c.1950A>G	NP_001308933.1:p.Glu650=
NM_001322005.2:c.1950A>G	NP_001308934.1:p.Glu650=
NM_001322006.2:c.2199A>G	NP_001308935.1:p.Glu733=
NM_001322008.2:c.2037A>G	NP_001308937.1:p.Glu679=
NM_001322009.2:c.1983A>G	NP_001308938.1:p.Glu661=
NM_001322010.2:c.1794A>G	NP_001308939.1:p.Glu598=
NM_001322011.2:c.1422A>G	NP_001308940.1:p.Glu474=
NM_001322012.2:c.1422A>G	NP_001308941.1:p.Glu474=
NM_001322013.2:c.1782A>G	NP_001308942.1:p.Glu594=
NM_001322014.2:c.2388A>G	NP_001308943.1:p.Glu796=
NM_001322015.2:c.2046A>G	NP_001308944.1:p.Glu682=
NM_001322007.2:c.2037A>G	NP_001308936.1:p.Glu679=