Canonical Allele Identifier: CA10577334

Gene: PMS2

Linked Data

• ClinVar Variation Id: 234759
• ClinVar RCV Id: RCV000217259 ; RCV000533097 ; RCV002429081 ; RCV004020709
• dbSNP Id: rs876661203
• MyVariant Identifiers: chr7:g.6013097C>T (hg19) ; chr7:g.5973466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973466C>T , CM000669.2:g.5973466C>T	GRCh38
NC_000007.13:g.6013097C>T , CM000669.1:g.6013097C>T	GRCh37
NC_000007.12:g.5979623C>T	NCBI36
NG_008466.1:g.40641G>A , LRG_161:g.40641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1918G>A	ENSP00000514615.2:n.*1918G>A
ENST00000699840.2:c.2519G>A	ENSP00000514638.2:p.Trp840Ter
ENST00000699930.2:c.2414G>A	ENSP00000514695.2:p.Trp805Ter
ENST00000406569.8:c.1882G>A	ENSP00000514464.1:n.1882G>A
ENST00000644110.2:c.*2116G>A	ENSP00000496392.2:n.*2116G>A
ENST00000699752.1:c.2366G>A	ENSP00000514561.1:p.Trp789Ter
ENST00000699753.1:c.*1943G>A	ENSP00000514562.1:n.*1943G>A
ENST00000699754.1:c.2324G>A	ENSP00000514563.1:p.Trp775Ter
ENST00000699755.1:c.*1921G>A	ENSP00000514564.1:n.*1921G>A
ENST00000699756.1:c.*2109G>A	ENSP00000514565.1:n.*2109G>A
ENST00000699757.1:c.*1779G>A	ENSP00000514566.1:n.*1779G>A
ENST00000699758.1:c.*1779G>A	ENSP00000514567.1:n.*1779G>A
ENST00000699759.1:n.3376G>A
ENST00000699760.1:c.2204G>A	ENSP00000514568.1:p.Trp735Ter
ENST00000699761.1:c.2117G>A	ENSP00000514569.1:p.Trp706Ter
ENST00000699762.1:c.1949G>A	ENSP00000514570.1:p.Trp650Ter
ENST00000699763.1:c.*1612G>A	ENSP00000514571.1:n.*1612G>A
ENST00000699764.1:c.*840G>A	ENSP00000514572.1:n.*840G>A
ENST00000699765.1:c.*1517G>A	ENSP00000514573.1:n.*1517G>A
ENST00000699766.1:c.2555G>A	ENSP00000514574.1:p.Trp852Ter
ENST00000699767.1:c.*163G>A	ENSP00000514575.1:n.*163G>A
ENST00000699768.1:c.2378G>A	ENSP00000514576.1:p.Trp793Ter
ENST00000699811.1:c.2117G>A	ENSP00000514614.1:p.Trp706Ter
ENST00000699813.1:n.2635G>A
ENST00000699814.1:c.2145G>A
ENST00000699815.1:c.*2053G>A	ENSP00000514616.1:n.*2053G>A
ENST00000699816.1:c.*1412G>A	ENSP00000514617.1:n.*1412G>A
ENST00000699817.1:c.*2116G>A	ENSP00000514618.1:n.*2116G>A
ENST00000699818.1:c.2117G>A	ENSP00000514619.1:p.Trp706Ter
ENST00000699819.1:c.*1679G>A	ENSP00000514620.1:n.*1679G>A
ENST00000699820.1:c.*460G>A	ENSP00000514621.1:n.*460G>A
ENST00000699821.1:c.2150G>A	ENSP00000514622.1:p.Trp717Ter
ENST00000699822.1:c.*1974G>A	ENSP00000514623.1:n.*1974G>A
ENST00000699823.1:c.2117G>A	ENSP00000514624.1:p.Trp706Ter
ENST00000699824.1:c.*2025G>A	ENSP00000514625.1:n.*2025G>A
ENST00000699825.1:c.1961G>A	ENSP00000514626.1:p.Trp654Ter
ENST00000699826.1:c.*1921G>A	ENSP00000514627.1:n.*1921G>A
ENST00000699827.1:c.2354G>A	ENSP00000514628.1:p.Trp785Ter
ENST00000699828.1:c.*1612G>A	ENSP00000514629.1:n.*1612G>A
ENST00000699833.1:n.4294G>A
ENST00000699837.1:c.2117G>A	ENSP00000514635.1:p.Trp706Ter
ENST00000699838.1:c.*2422G>A	ENSP00000514636.1:n.*2422G>A
ENST00000699839.1:c.2708G>A	ENSP00000514637.1:p.Trp903Ter
ENST00000699916.1:c.*1779G>A	ENSP00000514684.1:n.*1779G>A
ENST00000699917.1:c.*1971G>A	ENSP00000514685.1:n.*1971G>A
ENST00000699918.1:c.*2023G>A	ENSP00000514686.1:n.*2023G>A
ENST00000699919.1:c.*2109G>A	ENSP00000514687.1:n.*2109G>A
ENST00000699920.1:c.*2158G>A	ENSP00000514688.1:n.*2158G>A
ENST00000699928.1:c.*460G>A	ENSP00000514693.1:n.*460G>A
ENST00000699951.1:c.*1575G>A	ENSP00000514706.1:n.*1575G>A
ENST00000699952.1:c.*76G>A	ENSP00000514707.1:n.*76G>A
ENST00000265849.12:c.2522G>A MANE Select	ENSP00000265849.7:p.Trp841Ter
ENST00000642292.1:c.2117G>A	ENSP00000495524.1:p.Trp706Ter
ENST00000642456.1:c.2117G>A	ENSP00000493814.1:p.Trp706Ter
ENST00000643595.1:c.*1921G>A	ENSP00000494497.1:n.*1921G>A
ENST00000644110.1:c.2204G>A	ENSP00000496392.1:p.Trp735Ter
ENST00000265849.11:c.2522G>A	ENSP00000265849.7:p.Trp841Ter
ENST00000382321.5:c.1319G>A	ENSP00000371758.4:p.Trp440Ter
ENST00000441476.6:c.2204G>A	ENSP00000392843.2:p.Trp735Ter
NM_000535.5:c.2522G>A , LRG_161t1:c.2522G>A	NP_000526.1:p.Trp841Ter
NR_003085.2:n.2604G>A
XM_006715742.2:c.2516G>A	XP_006715805.1:p.Trp839Ter
XM_006715744.2:c.1589G>A	XP_006715807.1:p.Trp530Ter
XM_011515427.1:c.2567G>A	XP_011513729.1:p.Trp856Ter
XM_011515428.1:c.2411G>A	XP_011513730.1:p.Trp804Ter
XM_011515429.1:c.2204G>A	XP_011513731.1:p.Trp735Ter
XM_011515430.1:c.2204G>A	XP_011513732.1:p.Trp735Ter
NM_000535.6:c.2522G>A	NP_000526.2:p.Trp841Ter
NM_001322003.1:c.2117G>A	NP_001308932.1:p.Trp706Ter
NM_001322004.1:c.2117G>A	NP_001308933.1:p.Trp706Ter
NM_001322005.1:c.2117G>A	NP_001308934.1:p.Trp706Ter
NM_001322006.1:c.2366G>A	NP_001308935.1:p.Trp789Ter
NM_001322007.1:c.2204G>A	NP_001308936.1:p.Trp735Ter
NM_001322008.1:c.2204G>A	NP_001308937.1:p.Trp735Ter
NM_001322009.1:c.2150G>A	NP_001308938.1:p.Trp717Ter
NM_001322010.1:c.1961G>A	NP_001308939.1:p.Trp654Ter
NM_001322011.1:c.1589G>A	NP_001308940.1:p.Trp530Ter
NM_001322012.1:c.1589G>A	NP_001308941.1:p.Trp530Ter
NM_001322013.1:c.1949G>A	NP_001308942.1:p.Trp650Ter
NM_001322014.1:c.2555G>A	NP_001308943.1:p.Trp852Ter
NM_001322015.1:c.2213G>A	NP_001308944.1:p.Trp738Ter
NR_136154.1:n.2566G>A
XM_006715744.4:c.1589G>A	XP_006715807.1:p.Trp530Ter
XM_017012342.2:c.1589G>A	XP_016867831.1:p.Trp530Ter
XM_024446800.1:c.1961G>A	XP_024302568.1:p.Trp654Ter
NM_000535.7:c.2522G>A MANE Select	NP_000526.2:p.Trp841Ter
NM_001322003.2:c.2117G>A	NP_001308932.1:p.Trp706Ter
NM_001322004.2:c.2117G>A	NP_001308933.1:p.Trp706Ter
NM_001322005.2:c.2117G>A	NP_001308934.1:p.Trp706Ter
NM_001322006.2:c.2366G>A	NP_001308935.1:p.Trp789Ter
NM_001322008.2:c.2204G>A	NP_001308937.1:p.Trp735Ter
NM_001322009.2:c.2150G>A	NP_001308938.1:p.Trp717Ter
NM_001322010.2:c.1961G>A	NP_001308939.1:p.Trp654Ter
NM_001322011.2:c.1589G>A	NP_001308940.1:p.Trp530Ter
NM_001322012.2:c.1589G>A	NP_001308941.1:p.Trp530Ter
NM_001322013.2:c.1949G>A	NP_001308942.1:p.Trp650Ter
NM_001322014.2:c.2555G>A	NP_001308943.1:p.Trp852Ter
NM_001322015.2:c.2213G>A	NP_001308944.1:p.Trp738Ter
NM_001322007.2:c.2204G>A	NP_001308936.1:p.Trp735Ter