Canonical Allele Identifier: CA2499218968

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1049894
• ClinVar RCV Id: RCV001871933 ; RCV002456536 ; RCV003450001
• dbSNP Id: rs2128746842

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5989800del , CM000669.2:g.5989800del	GRCh38
NC_000007.13:g.6029431del , CM000669.1:g.6029431del	GRCh37
NC_000007.12:g.5995957del	NCBI36
NG_008466.1:g.24308del , LRG_161:g.24308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*540+1del
ENST00000699840.2:c.1141+1del
ENST00000699930.2:c.1036+1del
ENST00000406569.8:c.1144+1del
ENST00000644110.2:c.*738+1del
ENST00000699752.1:c.988+2174del	ENSP00000514561.1:n.988+2174del
ENST00000699753.1:c.*565+1del
ENST00000699754.1:c.946+1del
ENST00000699755.1:c.*543+1del
ENST00000699756.1:c.*731+1del
ENST00000699757.1:c.*401+1del
ENST00000699758.1:c.*401+1del
ENST00000699759.1:n.1998+1del
ENST00000699760.1:c.826+1del
ENST00000699761.1:c.739+1del
ENST00000699762.1:c.571+1del
ENST00000699763.1:c.*234+1del
ENST00000699764.1:c.1144+1del
ENST00000699765.1:c.*240+1del
ENST00000699766.1:c.1144+1del
ENST00000699767.1:c.1144+1del
ENST00000699768.1:c.1144+1del
ENST00000699811.1:c.739+1del
ENST00000699813.1:n.1257+1del
ENST00000699814.1:c.767+1del
ENST00000699815.1:c.*636+1del
ENST00000699816.1:c.739+1del
ENST00000699817.1:c.*738+1del
ENST00000699818.1:c.739+1del
ENST00000699819.1:c.*301+1del
ENST00000699820.1:c.1144+1del
ENST00000699821.1:c.739+1del
ENST00000699822.1:c.*596+1del
ENST00000699823.1:c.739+1del
ENST00000699824.1:c.*647+1del
ENST00000699825.1:c.583+2174del	ENSP00000514626.1:n.583+2174del
ENST00000699826.1:c.*543+1del
ENST00000699827.1:c.976+1del
ENST00000699828.1:c.*234+1del
ENST00000699829.1:c.*645+1del
ENST00000699830.1:c.*543+1del
ENST00000699833.1:n.2916+1del
ENST00000699837.1:c.739+1del
ENST00000699838.1:c.*1044+1del
ENST00000699839.1:c.1330+1del
ENST00000699840.1:c.1141+1del
ENST00000699916.1:c.*401+1del
ENST00000699917.1:c.*593+1del
ENST00000699918.1:c.*645+1del
ENST00000699919.1:c.*731+1del
ENST00000699920.1:c.*780+1del
ENST00000699928.1:c.988+2174del	ENSP00000514693.1:n.988+2174del
ENST00000699929.1:c.*445+1del
ENST00000699930.1:c.1036+1del
ENST00000699931.1:n.2572+1del
ENST00000699932.1:c.*362+1del
ENST00000699933.1:n.1125del
ENST00000699951.1:c.*240+1del
ENST00000699952.1:c.803+7527del	ENSP00000514707.1:n.803+7527del
ENST00000699953.1:c.*251+1del
ENST00000699954.1:c.*445+1del
ENST00000265849.12:c.1144+1del
ENST00000642292.1:c.739+1del
ENST00000642456.1:c.739+1del
ENST00000643595.1:c.*543+1del
ENST00000644110.1:c.826+1del
ENST00000265849.11:c.1144+1del
ENST00000382321.5:c.804-6808del	ENSP00000371758.4:n.804-6808del
ENST00000406569.7:n.1144+1del
ENST00000441476.6:c.826+1del
ENST00000469652.1:n.63-6894del
NM_000535.5:c.1144+1del , LRG_161t1:c.1144+1del
NR_003085.2:n.1226+1del
XM_006715742.2:c.1138+1del
XM_006715744.2:c.211+1del
XM_011515427.1:c.1189+1del
XM_011515428.1:c.1033+2174del	XP_011513730.1:n.1033+2174del
XM_011515429.1:c.826+1del
XM_011515430.1:c.826+1del
NM_000535.6:c.1144+1del
NM_001322003.1:c.739+1del
NM_001322004.1:c.739+1del
NM_001322005.1:c.739+1del
NM_001322006.1:c.988+2174del	NP_001308935.1:n.988+2174del
NM_001322007.1:c.826+1del
NM_001322008.1:c.826+1del
NM_001322009.1:c.739+1del
NM_001322010.1:c.583+2174del	NP_001308939.1:n.583+2174del
NM_001322011.1:c.211+1del
NM_001322012.1:c.211+1del
NM_001322013.1:c.571+1del
NM_001322014.1:c.1144+1del
NM_001322015.1:c.835+1del
NR_136154.1:n.1231+1del
XM_006715744.4:c.211+1del
XM_017012342.2:c.211+1del
XM_024446800.1:c.583+2174del	XP_024302568.1:n.583+2174del
NM_000535.7:c.1144+1del
NM_001322003.2:c.739+1del
NM_001322004.2:c.739+1del
NM_001322005.2:c.739+1del
NM_001322006.2:c.988+2174del	NP_001308935.1:n.988+2174del
NM_001322008.2:c.826+1del
NM_001322009.2:c.739+1del
NM_001322010.2:c.583+2174del	NP_001308939.1:n.583+2174del
NM_001322011.2:c.211+1del
NM_001322012.2:c.211+1del
NM_001322013.2:c.571+1del
NM_001322014.2:c.1144+1del
NM_001322015.2:c.835+1del
NM_001322007.2:c.826+1del