Canonical Allele Identifier: CA366735790

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1414688
• ClinVar RCV Id: RCV001945358 ; RCV002458789
• dbSNP Id: rs2128673461
• gnomAD v4: 7-5977661-C-T
• MyVariant Identifiers: chr7:g.6017292C>T (hg19) ; chr7:g.5977661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977661C>T , CM000669.2:g.5977661C>T	GRCh38
NC_000007.13:g.6017292C>T , CM000669.1:g.6017292C>T	GRCh37
NC_000007.12:g.5983818C>T	NCBI36
NG_008466.1:g.36446G>A , LRG_161:g.36446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1768G>A	ENSP00000514615.2:n.*1768G>A
ENST00000699840.2:c.2369G>A	ENSP00000514638.2:p.Ser790Asn
ENST00000699930.2:c.2264G>A	ENSP00000514695.2:p.Ser755Asn
ENST00000406569.8:c.1732G>A	ENSP00000514464.1:n.1732G>A
ENST00000644110.2:c.*1966G>A	ENSP00000496392.2:n.*1966G>A
ENST00000699752.1:c.2216G>A	ENSP00000514561.1:p.Ser739Asn
ENST00000699753.1:c.*1793G>A	ENSP00000514562.1:n.*1793G>A
ENST00000699754.1:c.2174G>A	ENSP00000514563.1:p.Ser725Asn
ENST00000699755.1:c.*1771G>A	ENSP00000514564.1:n.*1771G>A
ENST00000699756.1:c.*1959G>A	ENSP00000514565.1:n.*1959G>A
ENST00000699757.1:c.*1629G>A	ENSP00000514566.1:n.*1629G>A
ENST00000699758.1:c.*1629G>A	ENSP00000514567.1:n.*1629G>A
ENST00000699759.1:n.3226G>A
ENST00000699760.1:c.2054G>A	ENSP00000514568.1:p.Ser685Asn
ENST00000699761.1:c.1967G>A	ENSP00000514569.1:p.Ser656Asn
ENST00000699762.1:c.1799G>A	ENSP00000514570.1:p.Ser600Asn
ENST00000699763.1:c.*1462G>A	ENSP00000514571.1:n.*1462G>A
ENST00000699764.1:c.*690G>A	ENSP00000514572.1:n.*690G>A
ENST00000699765.1:c.*1367G>A	ENSP00000514573.1:n.*1367G>A
ENST00000699766.1:c.2405G>A	ENSP00000514574.1:p.Ser802Asn
ENST00000699767.1:c.*13G>A	ENSP00000514575.1:n.*13G>A
ENST00000699768.1:c.2228G>A	ENSP00000514576.1:p.Ser743Asn
ENST00000699811.1:c.1967G>A	ENSP00000514614.1:p.Ser656Asn
ENST00000699813.1:n.2485G>A
ENST00000699814.1:c.1995G>A
ENST00000699815.1:c.*1903G>A	ENSP00000514616.1:n.*1903G>A
ENST00000699816.1:c.*1262G>A	ENSP00000514617.1:n.*1262G>A
ENST00000699817.1:c.*1966G>A	ENSP00000514618.1:n.*1966G>A
ENST00000699818.1:c.1967G>A	ENSP00000514619.1:p.Ser656Asn
ENST00000699819.1:c.*1529G>A	ENSP00000514620.1:n.*1529G>A
ENST00000699820.1:c.*310G>A	ENSP00000514621.1:n.*310G>A
ENST00000699821.1:c.2000G>A	ENSP00000514622.1:p.Ser667Asn
ENST00000699822.1:c.*1824G>A	ENSP00000514623.1:n.*1824G>A
ENST00000699823.1:c.1967G>A	ENSP00000514624.1:p.Ser656Asn
ENST00000699824.1:c.*1875G>A	ENSP00000514625.1:n.*1875G>A
ENST00000699825.1:c.1811G>A	ENSP00000514626.1:p.Ser604Asn
ENST00000699826.1:c.*1771G>A	ENSP00000514627.1:n.*1771G>A
ENST00000699827.1:c.2204G>A	ENSP00000514628.1:p.Ser735Asn
ENST00000699828.1:c.*1462G>A	ENSP00000514629.1:n.*1462G>A
ENST00000699833.1:n.4144G>A
ENST00000699837.1:c.1967G>A	ENSP00000514635.1:p.Ser656Asn
ENST00000699838.1:c.*2272G>A	ENSP00000514636.1:n.*2272G>A
ENST00000699839.1:c.2558G>A	ENSP00000514637.1:p.Ser853Asn
ENST00000699916.1:c.*1629G>A	ENSP00000514684.1:n.*1629G>A
ENST00000699917.1:c.*1821G>A	ENSP00000514685.1:n.*1821G>A
ENST00000699918.1:c.*1873G>A	ENSP00000514686.1:n.*1873G>A
ENST00000699919.1:c.*1959G>A	ENSP00000514687.1:n.*1959G>A
ENST00000699920.1:c.*2008G>A	ENSP00000514688.1:n.*2008G>A
ENST00000699928.1:c.*310G>A	ENSP00000514693.1:n.*310G>A
ENST00000699951.1:c.*1425G>A	ENSP00000514706.1:n.*1425G>A
ENST00000699952.1:c.804-4119G>A	ENSP00000514707.1:n.804-4119G>A
ENST00000265849.12:c.2372G>A MANE Select	ENSP00000265849.7:p.Ser791Asn
ENST00000642292.1:c.1967G>A	ENSP00000495524.1:p.Ser656Asn
ENST00000642456.1:c.1967G>A	ENSP00000493814.1:p.Ser656Asn
ENST00000643595.1:c.*1771G>A	ENSP00000494497.1:n.*1771G>A
ENST00000644110.1:c.2054G>A	ENSP00000496392.1:p.Ser685Asn
ENST00000265849.11:c.2372G>A	ENSP00000265849.7:p.Ser791Asn
ENST00000382321.5:c.1169G>A	ENSP00000371758.4:p.Ser390Asn
ENST00000441476.6:c.2054G>A	ENSP00000392843.2:p.Ser685Asn
NM_000535.5:c.2372G>A , LRG_161t1:c.2372G>A	NP_000526.1:p.Ser791Asn
NR_003085.2:n.2454G>A
XM_006715742.2:c.2366G>A	XP_006715805.1:p.Ser789Asn
XM_006715744.2:c.1439G>A	XP_006715807.1:p.Ser480Asn
XM_011515427.1:c.2417G>A	XP_011513729.1:p.Ser806Asn
XM_011515428.1:c.2261G>A	XP_011513730.1:p.Ser754Asn
XM_011515429.1:c.2054G>A	XP_011513731.1:p.Ser685Asn
XM_011515430.1:c.2054G>A	XP_011513732.1:p.Ser685Asn
NM_000535.6:c.2372G>A	NP_000526.2:p.Ser791Asn
NM_001322003.1:c.1967G>A	NP_001308932.1:p.Ser656Asn
NM_001322004.1:c.1967G>A	NP_001308933.1:p.Ser656Asn
NM_001322005.1:c.1967G>A	NP_001308934.1:p.Ser656Asn
NM_001322006.1:c.2216G>A	NP_001308935.1:p.Ser739Asn
NM_001322007.1:c.2054G>A	NP_001308936.1:p.Ser685Asn
NM_001322008.1:c.2054G>A	NP_001308937.1:p.Ser685Asn
NM_001322009.1:c.2000G>A	NP_001308938.1:p.Ser667Asn
NM_001322010.1:c.1811G>A	NP_001308939.1:p.Ser604Asn
NM_001322011.1:c.1439G>A	NP_001308940.1:p.Ser480Asn
NM_001322012.1:c.1439G>A	NP_001308941.1:p.Ser480Asn
NM_001322013.1:c.1799G>A	NP_001308942.1:p.Ser600Asn
NM_001322014.1:c.2405G>A	NP_001308943.1:p.Ser802Asn
NM_001322015.1:c.2063G>A	NP_001308944.1:p.Ser688Asn
NR_136154.1:n.2416G>A
XM_006715744.4:c.1439G>A	XP_006715807.1:p.Ser480Asn
XM_017012342.2:c.1439G>A	XP_016867831.1:p.Ser480Asn
XM_024446800.1:c.1811G>A	XP_024302568.1:p.Ser604Asn
NM_000535.7:c.2372G>A MANE Select	NP_000526.2:p.Ser791Asn
NM_001322003.2:c.1967G>A	NP_001308932.1:p.Ser656Asn
NM_001322004.2:c.1967G>A	NP_001308933.1:p.Ser656Asn
NM_001322005.2:c.1967G>A	NP_001308934.1:p.Ser656Asn
NM_001322006.2:c.2216G>A	NP_001308935.1:p.Ser739Asn
NM_001322008.2:c.2054G>A	NP_001308937.1:p.Ser685Asn
NM_001322009.2:c.2000G>A	NP_001308938.1:p.Ser667Asn
NM_001322010.2:c.1811G>A	NP_001308939.1:p.Ser604Asn
NM_001322011.2:c.1439G>A	NP_001308940.1:p.Ser480Asn
NM_001322012.2:c.1439G>A	NP_001308941.1:p.Ser480Asn
NM_001322013.2:c.1799G>A	NP_001308942.1:p.Ser600Asn
NM_001322014.2:c.2405G>A	NP_001308943.1:p.Ser802Asn
NM_001322015.2:c.2063G>A	NP_001308944.1:p.Ser688Asn
NM_001322007.2:c.2054G>A	NP_001308936.1:p.Ser685Asn