Canonical Allele Identifier: CA339080
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216072

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987533dup , CM000669.2:g.5987533dup GRCh38
NC_000007.13:g.6027164dup , CM000669.1:g.6027164dup GRCh37
NC_000007.12:g.5993690dup NCBI36
NG_008466.1:g.26581dup , LRG_161:g.26581dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.1239dup MANE Select ENSP00000265849.7:p.Asp414ArgfsTer?
ENST00000642292.1:c.834dup ENSP00000495524.1:p.Asp279ArgfsTer?
ENST00000642456.1:c.834dup ENSP00000493814.1:p.Asp279ArgfsTer?
ENST00000643595.1:c.*638dup ENSP00000494497.1:p.=
ENST00000644110.1:n.921dup ENSP00000496392.1:p.Asp308ArgfsTer?
ENST00000265849.11:c.1239dup ENSP00000265849.7:p.Asp414ArgfsTer?
ENST00000382321.5:n.804-4535dup ENSP00000371758.4:p.=
ENST00000406569.7:n.1239dup
ENST00000441476.6:c.921dup ENSP00000392843.2:p.Asp308ArgfsTer?
ENST00000469652.1:n.63-4621dup
NM_000535.5:c.1239dup , LRG_161t1:c.1239dup NP_000526.1:p.Asp414ArgfsTer?
NR_003085.2:n.1321dup
XM_006715742.2:c.1233dup XP_006715805.1:p.Asp412ArgfsTer?
XM_006715744.2:c.306dup XP_006715807.1:p.Asp103ArgfsTer?
XM_011515427.1:c.1284dup XP_011513729.1:p.Asp429ArgfsTer?
XM_011515428.1:c.1128dup XP_011513730.1:p.Asp377ArgfsTer?
XM_011515429.1:c.921dup XP_011513731.1:p.Asp308ArgfsTer?
XM_011515430.1:c.921dup XP_011513732.1:p.Asp308ArgfsTer?
NM_000535.6:c.1239dup NP_000526.2:p.Asp414ArgfsTer?
NM_001322003.1:c.834dup NP_001308932.1:p.Asp279ArgfsTer?
NM_001322004.1:c.834dup NP_001308933.1:p.Asp279ArgfsTer?
NM_001322005.1:c.834dup NP_001308934.1:p.Asp279ArgfsTer?
NM_001322006.1:c.1083dup NP_001308935.1:p.Asp362ArgfsTer?
NM_001322007.1:c.921dup NP_001308936.1:p.Asp308ArgfsTer?
NM_001322008.1:c.921dup NP_001308937.1:p.Asp308ArgfsTer?
NM_001322009.1:c.834dup NP_001308938.1:p.Asp279ArgfsTer?
NM_001322010.1:c.678dup NP_001308939.1:p.Asp227ArgfsTer?
NM_001322011.1:c.306dup NP_001308940.1:p.Asp103ArgfsTer?
NM_001322012.1:c.306dup NP_001308941.1:p.Asp103ArgfsTer?
NM_001322013.1:c.666dup NP_001308942.1:p.Asp223ArgfsTer?
NM_001322014.1:c.1239dup NP_001308943.1:p.Asp414ArgfsTer?
NM_001322015.1:c.930dup NP_001308944.1:p.Asp311ArgfsTer?
NR_136154.1:n.1326dup
XM_006715744.4:c.306dup XP_006715807.1:p.Asp103ArgfsTer?
XM_017012342.2:c.306dup XP_016867831.1:p.Asp103ArgfsTer?
XM_024446800.1:c.678dup XP_024302568.1:p.Asp227ArgfsTer?
NM_000535.7:c.1239dup MANE Select NP_000526.2:p.Asp414ArgfsTer?
NM_001322003.2:c.834dup NP_001308932.1:p.Asp279ArgfsTer?
NM_001322004.2:c.834dup NP_001308933.1:p.Asp279ArgfsTer?
NM_001322005.2:c.834dup NP_001308934.1:p.Asp279ArgfsTer?
NM_001322006.2:c.1083dup NP_001308935.1:p.Asp362ArgfsTer?
NM_001322008.2:c.921dup NP_001308937.1:p.Asp308ArgfsTer?
NM_001322009.2:c.834dup NP_001308938.1:p.Asp279ArgfsTer?
NM_001322010.2:c.678dup NP_001308939.1:p.Asp227ArgfsTer?
NM_001322011.2:c.306dup NP_001308940.1:p.Asp103ArgfsTer?
NM_001322012.2:c.306dup NP_001308941.1:p.Asp103ArgfsTer?
NM_001322013.2:c.666dup NP_001308942.1:p.Asp223ArgfsTer?
NM_001322014.2:c.1239dup NP_001308943.1:p.Asp414ArgfsTer?
NM_001322015.2:c.930dup NP_001308944.1:p.Asp311ArgfsTer?
NM_001322007.2:c.921dup NP_001308936.1:p.Asp308ArgfsTer?