Canonical Allele Identifier: CA366741221

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1050749
• ClinVar RCV Id: RCV001358557
• dbSNP Id: rs876658481
• gnomAD v4: 7-5987083-T-C
• MyVariant Identifiers: chr7:g.6026714T>C (hg19) ; chr7:g.5987083T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987083T>C , CM000669.2:g.5987083T>C	GRCh38
NC_000007.13:g.6026714T>C , CM000669.1:g.6026714T>C	GRCh37
NC_000007.12:g.5993240T>C	NCBI36
NG_008466.1:g.27024A>G , LRG_161:g.27024A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1078A>G	ENSP00000514615.2:n.*1078A>G
ENST00000699840.2:c.1679A>G	ENSP00000514638.2:p.Lys560Arg
ENST00000699930.2:c.1574A>G	ENSP00000514695.2:p.Lys525Arg
ENST00000406569.8:c.1678+4A>G	ENSP00000514464.1:n.1678+4A>G
ENST00000644110.2:c.*1276A>G	ENSP00000496392.2:n.*1276A>G
ENST00000699752.1:c.1526A>G	ENSP00000514561.1:p.Lys509Arg
ENST00000699753.1:c.*1103A>G	ENSP00000514562.1:n.*1103A>G
ENST00000699754.1:c.1484A>G	ENSP00000514563.1:p.Lys495Arg
ENST00000699755.1:c.*1081A>G	ENSP00000514564.1:n.*1081A>G
ENST00000699756.1:c.*1269A>G	ENSP00000514565.1:n.*1269A>G
ENST00000699757.1:c.*939A>G	ENSP00000514566.1:n.*939A>G
ENST00000699758.1:c.*939A>G	ENSP00000514567.1:n.*939A>G
ENST00000699759.1:n.2536A>G
ENST00000699760.1:c.1364A>G	ENSP00000514568.1:p.Lys455Arg
ENST00000699761.1:c.1277A>G	ENSP00000514569.1:p.Lys426Arg
ENST00000699762.1:c.1109A>G	ENSP00000514570.1:p.Lys370Arg
ENST00000699763.1:c.*772A>G	ENSP00000514571.1:n.*772A>G
ENST00000699764.1:c.1593A>G	ENSP00000514572.1:p.Ter531=
ENST00000699765.1:c.*778A>G	ENSP00000514573.1:n.*778A>G
ENST00000699766.1:c.1682A>G	ENSP00000514574.1:p.Lys561Arg
ENST00000699767.1:c.1682A>G	ENSP00000514575.1:p.Lys561Arg
ENST00000699768.1:c.1682A>G	ENSP00000514576.1:p.Lys561Arg
ENST00000699811.1:c.1277A>G	ENSP00000514614.1:p.Lys426Arg
ENST00000699813.1:n.1795A>G
ENST00000699814.1:c.1305A>G
ENST00000699815.1:c.*1213A>G	ENSP00000514616.1:n.*1213A>G
ENST00000699816.1:c.*572A>G	ENSP00000514617.1:n.*572A>G
ENST00000699817.1:c.*1276A>G	ENSP00000514618.1:n.*1276A>G
ENST00000699818.1:c.1277A>G	ENSP00000514619.1:p.Lys426Arg
ENST00000699819.1:c.*839A>G	ENSP00000514620.1:n.*839A>G
ENST00000699820.1:c.1144+2717A>G	ENSP00000514621.1:n.1144+2717A>G
ENST00000699821.1:c.1277A>G	ENSP00000514622.1:p.Lys426Arg
ENST00000699822.1:c.*1134A>G	ENSP00000514623.1:n.*1134A>G
ENST00000699823.1:c.1277A>G	ENSP00000514624.1:p.Lys426Arg
ENST00000699824.1:c.*1185A>G	ENSP00000514625.1:n.*1185A>G
ENST00000699825.1:c.1121A>G	ENSP00000514626.1:p.Lys374Arg
ENST00000699826.1:c.*1081A>G	ENSP00000514627.1:n.*1081A>G
ENST00000699827.1:c.1514A>G	ENSP00000514628.1:p.Lys505Arg
ENST00000699828.1:c.*772A>G	ENSP00000514629.1:n.*772A>G
ENST00000699833.1:n.3454A>G
ENST00000699837.1:c.1277A>G	ENSP00000514635.1:p.Lys426Arg
ENST00000699838.1:c.*1582A>G	ENSP00000514636.1:n.*1582A>G
ENST00000699839.1:c.1868A>G	ENSP00000514637.1:p.Lys623Arg
ENST00000699916.1:c.*939A>G	ENSP00000514684.1:n.*939A>G
ENST00000699917.1:c.*1131A>G	ENSP00000514685.1:n.*1131A>G
ENST00000699918.1:c.*1183A>G	ENSP00000514686.1:n.*1183A>G
ENST00000699919.1:c.*1269A>G	ENSP00000514687.1:n.*1269A>G
ENST00000699920.1:c.*1318A>G	ENSP00000514688.1:n.*1318A>G
ENST00000699928.1:c.989-4092A>G	ENSP00000514693.1:n.989-4092A>G
ENST00000699929.1:c.*983A>G	ENSP00000514694.1:n.*983A>G
ENST00000699930.1:c.1574A>G	ENSP00000514695.1:p.Lys525Arg
ENST00000699931.1:n.3110A>G
ENST00000699951.1:c.*778A>G	ENSP00000514706.1:n.*778A>G
ENST00000699952.1:c.803+10243A>G	ENSP00000514707.1:n.803+10243A>G
ENST00000699953.1:c.*789A>G	ENSP00000514708.1:n.*789A>G
ENST00000699954.1:c.*983A>G	ENSP00000514709.1:n.*983A>G
ENST00000265849.12:c.1682A>G MANE Select	ENSP00000265849.7:p.Lys561Arg
ENST00000642292.1:c.1277A>G	ENSP00000495524.1:p.Lys426Arg
ENST00000642456.1:c.1277A>G	ENSP00000493814.1:p.Lys426Arg
ENST00000643595.1:c.*1081A>G	ENSP00000494497.1:n.*1081A>G
ENST00000644110.1:c.1364A>G	ENSP00000496392.1:p.Lys455Arg
ENST00000265849.11:c.1682A>G	ENSP00000265849.7:p.Lys561Arg
ENST00000382321.5:c.804-4092A>G	ENSP00000371758.4:n.804-4092A>G
ENST00000406569.7:n.1678+4A>G
ENST00000441476.6:c.1364A>G	ENSP00000392843.2:p.Lys455Arg
ENST00000469652.1:n.63-4178A>G
NM_000535.5:c.1682A>G , LRG_161t1:c.1682A>G	NP_000526.1:p.Lys561Arg
NR_003085.2:n.1764A>G
XM_006715742.2:c.1676A>G	XP_006715805.1:p.Lys559Arg
XM_006715744.2:c.749A>G	XP_006715807.1:p.Lys250Arg
XM_011515427.1:c.1727A>G	XP_011513729.1:p.Lys576Arg
XM_011515428.1:c.1571A>G	XP_011513730.1:p.Lys524Arg
XM_011515429.1:c.1364A>G	XP_011513731.1:p.Lys455Arg
XM_011515430.1:c.1364A>G	XP_011513732.1:p.Lys455Arg
NM_000535.6:c.1682A>G	NP_000526.2:p.Lys561Arg
NM_001322003.1:c.1277A>G	NP_001308932.1:p.Lys426Arg
NM_001322004.1:c.1277A>G	NP_001308933.1:p.Lys426Arg
NM_001322005.1:c.1277A>G	NP_001308934.1:p.Lys426Arg
NM_001322006.1:c.1526A>G	NP_001308935.1:p.Lys509Arg
NM_001322007.1:c.1364A>G	NP_001308936.1:p.Lys455Arg
NM_001322008.1:c.1364A>G	NP_001308937.1:p.Lys455Arg
NM_001322009.1:c.1277A>G	NP_001308938.1:p.Lys426Arg
NM_001322010.1:c.1121A>G	NP_001308939.1:p.Lys374Arg
NM_001322011.1:c.749A>G	NP_001308940.1:p.Lys250Arg
NM_001322012.1:c.749A>G	NP_001308941.1:p.Lys250Arg
NM_001322013.1:c.1109A>G	NP_001308942.1:p.Lys370Arg
NM_001322014.1:c.1682A>G	NP_001308943.1:p.Lys561Arg
NM_001322015.1:c.1373A>G	NP_001308944.1:p.Lys458Arg
NR_136154.1:n.1769A>G
XM_006715744.4:c.749A>G	XP_006715807.1:p.Lys250Arg
XM_017012342.2:c.749A>G	XP_016867831.1:p.Lys250Arg
XM_024446800.1:c.1121A>G	XP_024302568.1:p.Lys374Arg
NM_000535.7:c.1682A>G MANE Select	NP_000526.2:p.Lys561Arg
NM_001322003.2:c.1277A>G	NP_001308932.1:p.Lys426Arg
NM_001322004.2:c.1277A>G	NP_001308933.1:p.Lys426Arg
NM_001322005.2:c.1277A>G	NP_001308934.1:p.Lys426Arg
NM_001322006.2:c.1526A>G	NP_001308935.1:p.Lys509Arg
NM_001322008.2:c.1364A>G	NP_001308937.1:p.Lys455Arg
NM_001322009.2:c.1277A>G	NP_001308938.1:p.Lys426Arg
NM_001322010.2:c.1121A>G	NP_001308939.1:p.Lys374Arg
NM_001322011.2:c.749A>G	NP_001308940.1:p.Lys250Arg
NM_001322012.2:c.749A>G	NP_001308941.1:p.Lys250Arg
NM_001322013.2:c.1109A>G	NP_001308942.1:p.Lys370Arg
NM_001322014.2:c.1682A>G	NP_001308943.1:p.Lys561Arg
NM_001322015.2:c.1373A>G	NP_001308944.1:p.Lys458Arg
NM_001322007.2:c.1364A>G	NP_001308936.1:p.Lys455Arg