Canonical Allele Identifier: CA366735606

Gene: PMS2

Linked Data

• ClinVar Variation Id: 959165
• ClinVar RCV Id: RCV001232459 ; RCV001776157
• dbSNP Id: rs1306035279
• gnomAD v4: 7-5977611-C-G
• MyVariant Identifiers: chr7:g.6017242C>G (hg19) ; chr7:g.5977611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977611C>G , CM000669.2:g.5977611C>G	GRCh38
NC_000007.13:g.6017242C>G , CM000669.1:g.6017242C>G	GRCh37
NC_000007.12:g.5983768C>G	NCBI36
NG_008466.1:g.36496G>C , LRG_161:g.36496G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1818G>C	ENSP00000514615.2:n.*1818G>C
ENST00000699840.2:c.2419G>C	ENSP00000514638.2:p.Ala807Pro
ENST00000699930.2:c.2314G>C	ENSP00000514695.2:p.Ala772Pro
ENST00000406569.8:c.1782G>C	ENSP00000514464.1:n.1782G>C
ENST00000644110.2:c.*2016G>C	ENSP00000496392.2:n.*2016G>C
ENST00000699752.1:c.2266G>C	ENSP00000514561.1:p.Ala756Pro
ENST00000699753.1:c.*1843G>C	ENSP00000514562.1:n.*1843G>C
ENST00000699754.1:c.2224G>C	ENSP00000514563.1:p.Ala742Pro
ENST00000699755.1:c.*1821G>C	ENSP00000514564.1:n.*1821G>C
ENST00000699756.1:c.*2009G>C	ENSP00000514565.1:n.*2009G>C
ENST00000699757.1:c.*1679G>C	ENSP00000514566.1:n.*1679G>C
ENST00000699758.1:c.*1679G>C	ENSP00000514567.1:n.*1679G>C
ENST00000699759.1:n.3276G>C
ENST00000699760.1:c.2104G>C	ENSP00000514568.1:p.Ala702Pro
ENST00000699761.1:c.2017G>C	ENSP00000514569.1:p.Ala673Pro
ENST00000699762.1:c.1849G>C	ENSP00000514570.1:p.Ala617Pro
ENST00000699763.1:c.*1512G>C	ENSP00000514571.1:n.*1512G>C
ENST00000699764.1:c.*740G>C	ENSP00000514572.1:n.*740G>C
ENST00000699765.1:c.*1417G>C	ENSP00000514573.1:n.*1417G>C
ENST00000699766.1:c.2455G>C	ENSP00000514574.1:p.Ala819Pro
ENST00000699767.1:c.*63G>C	ENSP00000514575.1:n.*63G>C
ENST00000699768.1:c.2278G>C	ENSP00000514576.1:p.Ala760Pro
ENST00000699811.1:c.2017G>C	ENSP00000514614.1:p.Ala673Pro
ENST00000699813.1:n.2535G>C
ENST00000699814.1:c.2045G>C
ENST00000699815.1:c.*1953G>C	ENSP00000514616.1:n.*1953G>C
ENST00000699816.1:c.*1312G>C	ENSP00000514617.1:n.*1312G>C
ENST00000699817.1:c.*2016G>C	ENSP00000514618.1:n.*2016G>C
ENST00000699818.1:c.2017G>C	ENSP00000514619.1:p.Ala673Pro
ENST00000699819.1:c.*1579G>C	ENSP00000514620.1:n.*1579G>C
ENST00000699820.1:c.*360G>C	ENSP00000514621.1:n.*360G>C
ENST00000699821.1:c.2050G>C	ENSP00000514622.1:p.Ala684Pro
ENST00000699822.1:c.*1874G>C	ENSP00000514623.1:n.*1874G>C
ENST00000699823.1:c.2017G>C	ENSP00000514624.1:p.Ala673Pro
ENST00000699824.1:c.*1925G>C	ENSP00000514625.1:n.*1925G>C
ENST00000699825.1:c.1861G>C	ENSP00000514626.1:p.Ala621Pro
ENST00000699826.1:c.*1821G>C	ENSP00000514627.1:n.*1821G>C
ENST00000699827.1:c.2254G>C	ENSP00000514628.1:p.Ala752Pro
ENST00000699828.1:c.*1512G>C	ENSP00000514629.1:n.*1512G>C
ENST00000699833.1:n.4194G>C
ENST00000699837.1:c.2017G>C	ENSP00000514635.1:p.Ala673Pro
ENST00000699838.1:c.*2322G>C	ENSP00000514636.1:n.*2322G>C
ENST00000699839.1:c.2608G>C	ENSP00000514637.1:p.Ala870Pro
ENST00000699916.1:c.*1679G>C	ENSP00000514684.1:n.*1679G>C
ENST00000699917.1:c.*1871G>C	ENSP00000514685.1:n.*1871G>C
ENST00000699918.1:c.*1923G>C	ENSP00000514686.1:n.*1923G>C
ENST00000699919.1:c.*2009G>C	ENSP00000514687.1:n.*2009G>C
ENST00000699920.1:c.*2058G>C	ENSP00000514688.1:n.*2058G>C
ENST00000699928.1:c.*360G>C	ENSP00000514693.1:n.*360G>C
ENST00000699951.1:c.*1475G>C	ENSP00000514706.1:n.*1475G>C
ENST00000699952.1:c.804-4069G>C	ENSP00000514707.1:n.804-4069G>C
ENST00000265849.12:c.2422G>C MANE Select	ENSP00000265849.7:p.Ala808Pro
ENST00000642292.1:c.2017G>C	ENSP00000495524.1:p.Ala673Pro
ENST00000642456.1:c.2017G>C	ENSP00000493814.1:p.Ala673Pro
ENST00000643595.1:c.*1821G>C	ENSP00000494497.1:n.*1821G>C
ENST00000644110.1:c.2104G>C	ENSP00000496392.1:p.Ala702Pro
ENST00000265849.11:c.2422G>C	ENSP00000265849.7:p.Ala808Pro
ENST00000382321.5:c.1219G>C	ENSP00000371758.4:p.Ala407Pro
ENST00000441476.6:c.2104G>C	ENSP00000392843.2:p.Ala702Pro
NM_000535.5:c.2422G>C , LRG_161t1:c.2422G>C	NP_000526.1:p.Ala808Pro
NR_003085.2:n.2504G>C
XM_006715742.2:c.2416G>C	XP_006715805.1:p.Ala806Pro
XM_006715744.2:c.1489G>C	XP_006715807.1:p.Ala497Pro
XM_011515427.1:c.2467G>C	XP_011513729.1:p.Ala823Pro
XM_011515428.1:c.2311G>C	XP_011513730.1:p.Ala771Pro
XM_011515429.1:c.2104G>C	XP_011513731.1:p.Ala702Pro
XM_011515430.1:c.2104G>C	XP_011513732.1:p.Ala702Pro
NM_000535.6:c.2422G>C	NP_000526.2:p.Ala808Pro
NM_001322003.1:c.2017G>C	NP_001308932.1:p.Ala673Pro
NM_001322004.1:c.2017G>C	NP_001308933.1:p.Ala673Pro
NM_001322005.1:c.2017G>C	NP_001308934.1:p.Ala673Pro
NM_001322006.1:c.2266G>C	NP_001308935.1:p.Ala756Pro
NM_001322007.1:c.2104G>C	NP_001308936.1:p.Ala702Pro
NM_001322008.1:c.2104G>C	NP_001308937.1:p.Ala702Pro
NM_001322009.1:c.2050G>C	NP_001308938.1:p.Ala684Pro
NM_001322010.1:c.1861G>C	NP_001308939.1:p.Ala621Pro
NM_001322011.1:c.1489G>C	NP_001308940.1:p.Ala497Pro
NM_001322012.1:c.1489G>C	NP_001308941.1:p.Ala497Pro
NM_001322013.1:c.1849G>C	NP_001308942.1:p.Ala617Pro
NM_001322014.1:c.2455G>C	NP_001308943.1:p.Ala819Pro
NM_001322015.1:c.2113G>C	NP_001308944.1:p.Ala705Pro
NR_136154.1:n.2466G>C
XM_006715744.4:c.1489G>C	XP_006715807.1:p.Ala497Pro
XM_017012342.2:c.1489G>C	XP_016867831.1:p.Ala497Pro
XM_024446800.1:c.1861G>C	XP_024302568.1:p.Ala621Pro
NM_000535.7:c.2422G>C MANE Select	NP_000526.2:p.Ala808Pro
NM_001322003.2:c.2017G>C	NP_001308932.1:p.Ala673Pro
NM_001322004.2:c.2017G>C	NP_001308933.1:p.Ala673Pro
NM_001322005.2:c.2017G>C	NP_001308934.1:p.Ala673Pro
NM_001322006.2:c.2266G>C	NP_001308935.1:p.Ala756Pro
NM_001322008.2:c.2104G>C	NP_001308937.1:p.Ala702Pro
NM_001322009.2:c.2050G>C	NP_001308938.1:p.Ala684Pro
NM_001322010.2:c.1861G>C	NP_001308939.1:p.Ala621Pro
NM_001322011.2:c.1489G>C	NP_001308940.1:p.Ala497Pro
NM_001322012.2:c.1489G>C	NP_001308941.1:p.Ala497Pro
NM_001322013.2:c.1849G>C	NP_001308942.1:p.Ala617Pro
NM_001322014.2:c.2455G>C	NP_001308943.1:p.Ala819Pro
NM_001322015.2:c.2113G>C	NP_001308944.1:p.Ala705Pro
NM_001322007.2:c.2104G>C	NP_001308936.1:p.Ala702Pro