Canonical Allele Identifier: CA331774

Gene: PMS2

Linked Data

• ClinVar Variation Id: 91385
• ClinVar RCV Id: RCV000076904
• MyVariant Identifiers: chr7:g.6028725_6029882del (hg19) ; chr7:g.5989094_5990251del (hg38)
• PubMed: PMID:15942939 ; PMID:16472587 ; PMID:20186688 ; PMID:22577899

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989115_5990272del , CM000669.2:g.5989115_5990272del	GRCh38
NC_000007.13:g.6028746_6029903del , CM000669.1:g.6028746_6029903del	GRCh37
NC_000007.12:g.5995272_5996429del	NCBI36
NG_008466.1:g.23856_25013del , LRG_161:g.23856_25013del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*385-296_*540+706del
ENST00000699840.2:c.986-296_1141+706del
ENST00000699930.2:c.881-296_1036+706del
ENST00000406569.8:c.989-296_1144+706del
ENST00000644110.2:c.*583-296_*738+706del
ENST00000699752.1:c.988+1722_989-1474del	ENSP00000514561.1:n.988+1722_989-1474del
ENST00000699753.1:c.*410-296_*565+706del
ENST00000699754.1:c.791-296_946+706del
ENST00000699755.1:c.*388-296_*543+706del
ENST00000699756.1:c.*576-296_*731+706del
ENST00000699757.1:c.*246-296_*401+706del
ENST00000699758.1:c.*246-296_*401+706del
ENST00000699759.1:n.1843-296_1998+706del
ENST00000699760.1:c.671-296_826+706del
ENST00000699761.1:c.584-296_739+706del
ENST00000699762.1:c.416-296_571+706del
ENST00000699763.1:c.*79-296_*234+706del
ENST00000699764.1:c.989-296_1144+706del
ENST00000699765.1:c.*85-296_*240+706del
ENST00000699766.1:c.989-296_1144+706del
ENST00000699767.1:c.989-296_1144+706del
ENST00000699768.1:c.989-296_1144+706del
ENST00000699811.1:c.584-296_739+706del
ENST00000699813.1:n.1102-296_1257+706del
ENST00000699814.1:c.612-296_767+706del
ENST00000699815.1:c.*481-296_*636+706del
ENST00000699816.1:c.584-296_739+706del
ENST00000699817.1:c.*583-296_*738+706del
ENST00000699818.1:c.584-296_739+706del
ENST00000699819.1:c.*146-296_*301+706del
ENST00000699820.1:c.989-296_1144+706del
ENST00000699821.1:c.584-296_739+706del
ENST00000699822.1:c.*441-296_*596+706del
ENST00000699823.1:c.584-296_739+706del
ENST00000699824.1:c.*492-296_*647+706del
ENST00000699825.1:c.583+1722_584-1474del	ENSP00000514626.1:n.583+1722_584-1474del
ENST00000699826.1:c.*388-296_*543+706del
ENST00000699827.1:c.821-296_976+706del
ENST00000699828.1:c.*79-296_*234+706del
ENST00000699829.1:c.*490-296_*645+706del
ENST00000699830.1:c.*388-296_*543+706del
ENST00000699833.1:n.2761-296_2916+706del
ENST00000699837.1:c.584-296_739+706del
ENST00000699838.1:c.*889-296_*1044+706del
ENST00000699839.1:c.1175-296_1330+706del
ENST00000699840.1:c.986-296_1141+706del
ENST00000699916.1:c.*246-296_*401+706del
ENST00000699917.1:c.*438-296_*593+706del
ENST00000699918.1:c.*490-296_*645+706del
ENST00000699919.1:c.*576-296_*731+706del
ENST00000699920.1:c.*625-296_*780+706del
ENST00000699928.1:c.988+1722_988+2879del	ENSP00000514693.1:n.988+1722_988+2879del
ENST00000699929.1:c.*290-296_*445+706del
ENST00000699930.1:c.881-296_1036+706del
ENST00000699931.1:n.2417-296_2572+706del
ENST00000699932.1:c.*207-296_*362+706del
ENST00000699951.1:c.*85-296_*240+706del
ENST00000699952.1:c.803+7075_803+8232del	ENSP00000514707.1:n.803+7075_803+8232del
ENST00000699953.1:c.*96-296_*251+706del
ENST00000699954.1:c.*290-296_*445+706del
ENST00000265849.12:c.989-296_1144+706del
ENST00000642292.1:c.584-296_739+706del
ENST00000642456.1:c.584-296_739+706del
ENST00000643595.1:c.*388-296_*543+706del
ENST00000644110.1:c.671-296_826+706del
ENST00000265849.11:c.989-296_1144+706del
ENST00000382321.5:c.803+7075_804-6103del	ENSP00000371758.4:n.803+7075_804-6103del
ENST00000406569.7:n.989-296_1144+706del
ENST00000441476.6:c.671-296_826+706del
ENST00000469652.1:n.63-7346_63-6189del
NM_000535.5:c.989-296_1144+706del , LRG_161t1:c.989-296_1144+706del
NR_003085.2:n.1071-296_1226+706del
XM_006715742.2:c.983-296_1138+706del
XM_006715744.2:c.56-296_211+706del
XM_011515427.1:c.1034-296_1189+706del
XM_011515428.1:c.1033+1722_1034-1474del	XP_011513730.1:n.1033+1722_1034-1474del
XM_011515429.1:c.671-296_826+706del
XM_011515430.1:c.671-296_826+706del
NM_000535.6:c.989-296_1144+706del
NM_001322003.1:c.584-296_739+706del
NM_001322004.1:c.584-296_739+706del
NM_001322005.1:c.584-296_739+706del
NM_001322006.1:c.988+1722_989-1474del	NP_001308935.1:n.988+1722_989-1474del
NM_001322007.1:c.671-296_826+706del
NM_001322008.1:c.671-296_826+706del
NM_001322009.1:c.584-296_739+706del
NM_001322010.1:c.583+1722_584-1474del	NP_001308939.1:n.583+1722_584-1474del
NM_001322011.1:c.56-296_211+706del
NM_001322012.1:c.56-296_211+706del
NM_001322013.1:c.416-296_571+706del
NM_001322014.1:c.989-296_1144+706del
NM_001322015.1:c.680-296_835+706del
NR_136154.1:n.1076-296_1231+706del
XM_006715744.4:c.56-296_211+706del
XM_017012342.2:c.56-296_211+706del
XM_024446800.1:c.583+1722_584-1474del	XP_024302568.1:n.583+1722_584-1474del
NM_000535.7:c.989-296_1144+706del
NM_001322003.2:c.584-296_739+706del
NM_001322004.2:c.584-296_739+706del
NM_001322005.2:c.584-296_739+706del
NM_001322006.2:c.988+1722_989-1474del	NP_001308935.1:n.988+1722_989-1474del
NM_001322008.2:c.671-296_826+706del
NM_001322009.2:c.584-296_739+706del
NM_001322010.2:c.583+1722_584-1474del	NP_001308939.1:n.583+1722_584-1474del
NM_001322011.2:c.56-296_211+706del
NM_001322012.2:c.56-296_211+706del
NM_001322013.2:c.416-296_571+706del
NM_001322014.2:c.989-296_1144+706del
NM_001322015.2:c.680-296_835+706del
NM_001322007.2:c.671-296_826+706del