Canonical Allele Identifier: CA366738077

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1785264
• ClinVar RCV Id: RCV002422013
• gnomAD v4: 7-5982935-A-C
• MyVariant Identifiers: chr7:g.6022566A>C (hg19) ; chr7:g.5982935A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982935A>C , CM000669.2:g.5982935A>C	GRCh38
NC_000007.13:g.6022566A>C , CM000669.1:g.6022566A>C	GRCh37
NC_000007.12:g.5989092A>C	NCBI36
NG_008466.1:g.31172T>G , LRG_161:g.31172T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1459T>G	ENSP00000514615.2:n.*1459T>G
ENST00000699840.2:c.2060T>G	ENSP00000514638.2:p.Ile687Arg
ENST00000699930.2:c.1955T>G	ENSP00000514695.2:p.Ile652Arg
ENST00000406569.8:c.1678+4152T>G	ENSP00000514464.1:n.1678+4152T>G
ENST00000644110.2:c.*1657T>G	ENSP00000496392.2:n.*1657T>G
ENST00000699752.1:c.1907T>G	ENSP00000514561.1:p.Ile636Arg
ENST00000699753.1:c.*1484T>G	ENSP00000514562.1:n.*1484T>G
ENST00000699754.1:c.1865T>G	ENSP00000514563.1:p.Ile622Arg
ENST00000699755.1:c.*1462T>G	ENSP00000514564.1:n.*1462T>G
ENST00000699756.1:c.*1650T>G	ENSP00000514565.1:n.*1650T>G
ENST00000699757.1:c.*1320T>G	ENSP00000514566.1:n.*1320T>G
ENST00000699758.1:c.*1320T>G	ENSP00000514567.1:n.*1320T>G
ENST00000699759.1:n.2917T>G
ENST00000699760.1:c.1745T>G	ENSP00000514568.1:p.Ile582Arg
ENST00000699761.1:c.1658T>G	ENSP00000514569.1:p.Ile553Arg
ENST00000699762.1:c.1490T>G	ENSP00000514570.1:p.Ile497Arg
ENST00000699763.1:c.*1153T>G	ENSP00000514571.1:n.*1153T>G
ENST00000699764.1:c.*381T>G	ENSP00000514572.1:n.*381T>G
ENST00000699765.1:c.*1159T>G	ENSP00000514573.1:n.*1159T>G
ENST00000699766.1:c.2063T>G	ENSP00000514574.1:p.Ile688Arg
ENST00000699767.1:c.2063T>G	ENSP00000514575.1:p.Ile688Arg
ENST00000699768.1:c.2063T>G	ENSP00000514576.1:p.Ile688Arg
ENST00000699811.1:c.1658T>G	ENSP00000514614.1:p.Ile553Arg
ENST00000699813.1:n.2176T>G
ENST00000699814.1:c.1686T>G
ENST00000699815.1:c.*1594T>G	ENSP00000514616.1:n.*1594T>G
ENST00000699816.1:c.*953T>G	ENSP00000514617.1:n.*953T>G
ENST00000699817.1:c.*1657T>G	ENSP00000514618.1:n.*1657T>G
ENST00000699818.1:c.1658T>G	ENSP00000514619.1:p.Ile553Arg
ENST00000699819.1:c.*1220T>G	ENSP00000514620.1:n.*1220T>G
ENST00000699820.1:c.*1T>G	ENSP00000514621.1:n.*1T>G
ENST00000699821.1:c.1658T>G	ENSP00000514622.1:p.Ile553Arg
ENST00000699822.1:c.*1515T>G	ENSP00000514623.1:n.*1515T>G
ENST00000699823.1:c.1658T>G	ENSP00000514624.1:p.Ile553Arg
ENST00000699824.1:c.*1566T>G	ENSP00000514625.1:n.*1566T>G
ENST00000699825.1:c.1502T>G	ENSP00000514626.1:p.Ile501Arg
ENST00000699826.1:c.*1462T>G	ENSP00000514627.1:n.*1462T>G
ENST00000699827.1:c.1895T>G	ENSP00000514628.1:p.Ile632Arg
ENST00000699828.1:c.*1153T>G	ENSP00000514629.1:n.*1153T>G
ENST00000699833.1:n.3835T>G
ENST00000699837.1:c.1658T>G	ENSP00000514635.1:p.Ile553Arg
ENST00000699838.1:c.*1963T>G	ENSP00000514636.1:n.*1963T>G
ENST00000699839.1:c.2249T>G	ENSP00000514637.1:p.Ile750Arg
ENST00000699916.1:c.*1320T>G	ENSP00000514684.1:n.*1320T>G
ENST00000699917.1:c.*1512T>G	ENSP00000514685.1:n.*1512T>G
ENST00000699918.1:c.*1564T>G	ENSP00000514686.1:n.*1564T>G
ENST00000699919.1:c.*1650T>G	ENSP00000514687.1:n.*1650T>G
ENST00000699920.1:c.*1699T>G	ENSP00000514688.1:n.*1699T>G
ENST00000699928.1:c.*1T>G	ENSP00000514693.1:n.*1T>G
ENST00000699951.1:c.*1159T>G	ENSP00000514706.1:n.*1159T>G
ENST00000699952.1:c.804-9393T>G	ENSP00000514707.1:n.804-9393T>G
ENST00000265849.12:c.2063T>G MANE Select	ENSP00000265849.7:p.Ile688Arg
ENST00000642292.1:c.1658T>G	ENSP00000495524.1:p.Ile553Arg
ENST00000642456.1:c.1658T>G	ENSP00000493814.1:p.Ile553Arg
ENST00000643595.1:c.*1462T>G	ENSP00000494497.1:n.*1462T>G
ENST00000644110.1:c.1745T>G	ENSP00000496392.1:p.Ile582Arg
ENST00000265849.11:c.2063T>G	ENSP00000265849.7:p.Ile688Arg
ENST00000382321.5:c.860T>G	ENSP00000371758.4:p.Ile287Arg
ENST00000406569.7:n.1678+4152T>G
ENST00000441476.6:c.1745T>G	ENSP00000392843.2:p.Ile582Arg
ENST00000469652.1:n.63-30T>G
NM_000535.5:c.2063T>G , LRG_161t1:c.2063T>G	NP_000526.1:p.Ile688Arg
NR_003085.2:n.2145T>G
XM_006715742.2:c.2057T>G	XP_006715805.1:p.Ile686Arg
XM_006715744.2:c.1130T>G	XP_006715807.1:p.Ile377Arg
XM_011515427.1:c.2108T>G	XP_011513729.1:p.Ile703Arg
XM_011515428.1:c.1952T>G	XP_011513730.1:p.Ile651Arg
XM_011515429.1:c.1745T>G	XP_011513731.1:p.Ile582Arg
XM_011515430.1:c.1745T>G	XP_011513732.1:p.Ile582Arg
NM_000535.6:c.2063T>G	NP_000526.2:p.Ile688Arg
NM_001322003.1:c.1658T>G	NP_001308932.1:p.Ile553Arg
NM_001322004.1:c.1658T>G	NP_001308933.1:p.Ile553Arg
NM_001322005.1:c.1658T>G	NP_001308934.1:p.Ile553Arg
NM_001322006.1:c.1907T>G	NP_001308935.1:p.Ile636Arg
NM_001322007.1:c.1745T>G	NP_001308936.1:p.Ile582Arg
NM_001322008.1:c.1745T>G	NP_001308937.1:p.Ile582Arg
NM_001322009.1:c.1658T>G	NP_001308938.1:p.Ile553Arg
NM_001322010.1:c.1502T>G	NP_001308939.1:p.Ile501Arg
NM_001322011.1:c.1130T>G	NP_001308940.1:p.Ile377Arg
NM_001322012.1:c.1130T>G	NP_001308941.1:p.Ile377Arg
NM_001322013.1:c.1490T>G	NP_001308942.1:p.Ile497Arg
NM_001322014.1:c.2063T>G	NP_001308943.1:p.Ile688Arg
NM_001322015.1:c.1754T>G	NP_001308944.1:p.Ile585Arg
NR_136154.1:n.2150T>G
XM_006715744.4:c.1130T>G	XP_006715807.1:p.Ile377Arg
XM_017012342.2:c.1130T>G	XP_016867831.1:p.Ile377Arg
XM_024446800.1:c.1502T>G	XP_024302568.1:p.Ile501Arg
NM_000535.7:c.2063T>G MANE Select	NP_000526.2:p.Ile688Arg
NM_001322003.2:c.1658T>G	NP_001308932.1:p.Ile553Arg
NM_001322004.2:c.1658T>G	NP_001308933.1:p.Ile553Arg
NM_001322005.2:c.1658T>G	NP_001308934.1:p.Ile553Arg
NM_001322006.2:c.1907T>G	NP_001308935.1:p.Ile636Arg
NM_001322008.2:c.1745T>G	NP_001308937.1:p.Ile582Arg
NM_001322009.2:c.1658T>G	NP_001308938.1:p.Ile553Arg
NM_001322010.2:c.1502T>G	NP_001308939.1:p.Ile501Arg
NM_001322011.2:c.1130T>G	NP_001308940.1:p.Ile377Arg
NM_001322012.2:c.1130T>G	NP_001308941.1:p.Ile377Arg
NM_001322013.2:c.1490T>G	NP_001308942.1:p.Ile497Arg
NM_001322014.2:c.2063T>G	NP_001308943.1:p.Ile688Arg
NM_001322015.2:c.1754T>G	NP_001308944.1:p.Ile585Arg
NM_001322007.2:c.1745T>G	NP_001308936.1:p.Ile582Arg