Canonical Allele Identifier: CA010597

Gene: PMS2

Linked Data

• ClinVar Variation Id: 185743
• ClinVar RCV Id: RCV000165222 ; RCV001201579 ; RCV003454403
• dbSNP Id: rs778531080
• MyVariant Identifiers: chr7:g.6026415C>A (hg19) ; chr7:g.5986784C>A (hg38)
• PubMed: PMID:20205264 ; PMID:22295133

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986784C>A , CM000669.2:g.5986784C>A	GRCh38
NC_000007.13:g.6026415C>A , CM000669.1:g.6026415C>A	GRCh37
NC_000007.12:g.5992941C>A	NCBI36
NG_008466.1:g.27323G>T , LRG_161:g.27323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1377G>T	ENSP00000514615.2:n.*1377G>T
ENST00000699840.2:c.1978G>T	ENSP00000514638.2:p.Glu660Ter
ENST00000699930.2:c.1873G>T	ENSP00000514695.2:p.Glu625Ter
ENST00000406569.8:c.1678+303G>T	ENSP00000514464.1:n.1678+303G>T
ENST00000644110.2:c.*1575G>T	ENSP00000496392.2:n.*1575G>T
ENST00000699752.1:c.1825G>T	ENSP00000514561.1:p.Glu609Ter
ENST00000699753.1:c.*1402G>T	ENSP00000514562.1:n.*1402G>T
ENST00000699754.1:c.1783G>T	ENSP00000514563.1:p.Glu595Ter
ENST00000699755.1:c.*1380G>T	ENSP00000514564.1:n.*1380G>T
ENST00000699756.1:c.*1568G>T	ENSP00000514565.1:n.*1568G>T
ENST00000699757.1:c.*1238G>T	ENSP00000514566.1:n.*1238G>T
ENST00000699758.1:c.*1238G>T	ENSP00000514567.1:n.*1238G>T
ENST00000699759.1:n.2835G>T
ENST00000699760.1:c.1663G>T	ENSP00000514568.1:p.Glu555Ter
ENST00000699761.1:c.1576G>T	ENSP00000514569.1:p.Glu526Ter
ENST00000699762.1:c.1408G>T	ENSP00000514570.1:p.Glu470Ter
ENST00000699763.1:c.*1071G>T	ENSP00000514571.1:n.*1071G>T
ENST00000699764.1:c.*299G>T	ENSP00000514572.1:n.*299G>T
ENST00000699765.1:c.*1077G>T	ENSP00000514573.1:n.*1077G>T
ENST00000699766.1:c.1981G>T	ENSP00000514574.1:p.Glu661Ter
ENST00000699767.1:c.1981G>T	ENSP00000514575.1:p.Glu661Ter
ENST00000699768.1:c.1981G>T	ENSP00000514576.1:p.Glu661Ter
ENST00000699811.1:c.1576G>T	ENSP00000514614.1:p.Glu526Ter
ENST00000699813.1:n.2094G>T
ENST00000699814.1:c.1604G>T
ENST00000699815.1:c.*1512G>T	ENSP00000514616.1:n.*1512G>T
ENST00000699816.1:c.*871G>T	ENSP00000514617.1:n.*871G>T
ENST00000699817.1:c.*1575G>T	ENSP00000514618.1:n.*1575G>T
ENST00000699818.1:c.1576G>T	ENSP00000514619.1:p.Glu526Ter
ENST00000699819.1:c.*1138G>T	ENSP00000514620.1:n.*1138G>T
ENST00000699820.1:c.1144+3016G>T	ENSP00000514621.1:n.1144+3016G>T
ENST00000699821.1:c.1576G>T	ENSP00000514622.1:p.Glu526Ter
ENST00000699822.1:c.*1433G>T	ENSP00000514623.1:n.*1433G>T
ENST00000699823.1:c.1576G>T	ENSP00000514624.1:p.Glu526Ter
ENST00000699824.1:c.*1484G>T	ENSP00000514625.1:n.*1484G>T
ENST00000699825.1:c.1420G>T	ENSP00000514626.1:p.Glu474Ter
ENST00000699826.1:c.*1380G>T	ENSP00000514627.1:n.*1380G>T
ENST00000699827.1:c.1813G>T	ENSP00000514628.1:p.Glu605Ter
ENST00000699828.1:c.*1071G>T	ENSP00000514629.1:n.*1071G>T
ENST00000699833.1:n.3753G>T
ENST00000699837.1:c.1576G>T	ENSP00000514635.1:p.Glu526Ter
ENST00000699838.1:c.*1881G>T	ENSP00000514636.1:n.*1881G>T
ENST00000699839.1:c.2167G>T	ENSP00000514637.1:p.Glu723Ter
ENST00000699916.1:c.*1238G>T	ENSP00000514684.1:n.*1238G>T
ENST00000699917.1:c.*1430G>T	ENSP00000514685.1:n.*1430G>T
ENST00000699918.1:c.*1482G>T	ENSP00000514686.1:n.*1482G>T
ENST00000699919.1:c.*1568G>T	ENSP00000514687.1:n.*1568G>T
ENST00000699920.1:c.*1617G>T	ENSP00000514688.1:n.*1617G>T
ENST00000699928.1:c.989-3793G>T	ENSP00000514693.1:n.989-3793G>T
ENST00000699951.1:c.*1077G>T	ENSP00000514706.1:n.*1077G>T
ENST00000699952.1:c.803+10542G>T	ENSP00000514707.1:n.803+10542G>T
ENST00000265849.12:c.1981G>T MANE Select	ENSP00000265849.7:p.Glu661Ter
ENST00000642292.1:c.1576G>T	ENSP00000495524.1:p.Glu526Ter
ENST00000642456.1:c.1576G>T	ENSP00000493814.1:p.Glu526Ter
ENST00000643595.1:c.*1380G>T	ENSP00000494497.1:n.*1380G>T
ENST00000644110.1:c.1663G>T	ENSP00000496392.1:p.Glu555Ter
ENST00000265849.11:c.1981G>T	ENSP00000265849.7:p.Glu661Ter
ENST00000382321.5:c.804-3793G>T	ENSP00000371758.4:n.804-3793G>T
ENST00000406569.7:n.1678+303G>T
ENST00000441476.6:c.1663G>T	ENSP00000392843.2:p.Glu555Ter
ENST00000469652.1:n.63-3879G>T
NM_000535.5:c.1981G>T , LRG_161t1:c.1981G>T	NP_000526.1:p.Glu661Ter
NR_003085.2:n.2063G>T
XM_006715742.2:c.1975G>T	XP_006715805.1:p.Glu659Ter
XM_006715744.2:c.1048G>T	XP_006715807.1:p.Glu350Ter
XM_011515427.1:c.2026G>T	XP_011513729.1:p.Glu676Ter
XM_011515428.1:c.1870G>T	XP_011513730.1:p.Glu624Ter
XM_011515429.1:c.1663G>T	XP_011513731.1:p.Glu555Ter
XM_011515430.1:c.1663G>T	XP_011513732.1:p.Glu555Ter
NM_000535.6:c.1981G>T	NP_000526.2:p.Glu661Ter
NM_001322003.1:c.1576G>T	NP_001308932.1:p.Glu526Ter
NM_001322004.1:c.1576G>T	NP_001308933.1:p.Glu526Ter
NM_001322005.1:c.1576G>T	NP_001308934.1:p.Glu526Ter
NM_001322006.1:c.1825G>T	NP_001308935.1:p.Glu609Ter
NM_001322007.1:c.1663G>T	NP_001308936.1:p.Glu555Ter
NM_001322008.1:c.1663G>T	NP_001308937.1:p.Glu555Ter
NM_001322009.1:c.1576G>T	NP_001308938.1:p.Glu526Ter
NM_001322010.1:c.1420G>T	NP_001308939.1:p.Glu474Ter
NM_001322011.1:c.1048G>T	NP_001308940.1:p.Glu350Ter
NM_001322012.1:c.1048G>T	NP_001308941.1:p.Glu350Ter
NM_001322013.1:c.1408G>T	NP_001308942.1:p.Glu470Ter
NM_001322014.1:c.1981G>T	NP_001308943.1:p.Glu661Ter
NM_001322015.1:c.1672G>T	NP_001308944.1:p.Glu558Ter
NR_136154.1:n.2068G>T
XM_006715744.4:c.1048G>T	XP_006715807.1:p.Glu350Ter
XM_017012342.2:c.1048G>T	XP_016867831.1:p.Glu350Ter
XM_024446800.1:c.1420G>T	XP_024302568.1:p.Glu474Ter
NM_000535.7:c.1981G>T MANE Select	NP_000526.2:p.Glu661Ter
NM_001322003.2:c.1576G>T	NP_001308932.1:p.Glu526Ter
NM_001322004.2:c.1576G>T	NP_001308933.1:p.Glu526Ter
NM_001322005.2:c.1576G>T	NP_001308934.1:p.Glu526Ter
NM_001322006.2:c.1825G>T	NP_001308935.1:p.Glu609Ter
NM_001322008.2:c.1663G>T	NP_001308937.1:p.Glu555Ter
NM_001322009.2:c.1576G>T	NP_001308938.1:p.Glu526Ter
NM_001322010.2:c.1420G>T	NP_001308939.1:p.Glu474Ter
NM_001322011.2:c.1048G>T	NP_001308940.1:p.Glu350Ter
NM_001322012.2:c.1048G>T	NP_001308941.1:p.Glu350Ter
NM_001322013.2:c.1408G>T	NP_001308942.1:p.Glu470Ter
NM_001322014.2:c.1981G>T	NP_001308943.1:p.Glu661Ter
NM_001322015.2:c.1672G>T	NP_001308944.1:p.Glu558Ter
NM_001322007.2:c.1663G>T	NP_001308936.1:p.Glu555Ter