Canonical Allele Identifier: CA044701
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135065
dbSNP Id: rs2228006

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987144T>C , CM000669.2:g.5987144T>C GRCh38
NC_000007.13:g.6026775T>C , CM000669.1:g.6026775T>C GRCh37
NC_000007.12:g.5993301T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.1621A>G MANE Select ENSP00000265849.7:p.Lys541Glu
ENST00000642292.1:c.1216A>G ENSP00000495524.1:p.Lys406Glu
ENST00000642456.1:c.1216A>G ENSP00000493814.1:p.Lys406Glu
ENST00000643595.1:c.*1020A>G ENSP00000494497.1:p.=
ENST00000644110.1:n.1303A>G ENSP00000496392.1:p.Lys435Glu
ENST00000265849.11:c.1621A>G ENSP00000265849.7:p.Lys541Glu
ENST00000382321.5:n.804-4153A>G ENSP00000371758.4:p.=
ENST00000406569.7:n.1621A>G
ENST00000441476.6:c.1303A>G ENSP00000392843.2:p.Lys435Glu
ENST00000469652.1:n.63-4239A>G
XM_006715742.2:c.1615A>G XP_006715805.1:p.Lys539Glu
XM_006715744.2:c.688A>G XP_006715807.1:p.Lys230Glu
XM_011515427.1:c.1666A>G XP_011513729.1:p.Lys556Glu
XM_011515428.1:c.1510A>G XP_011513730.1:p.Lys504Glu
XM_011515429.1:c.1303A>G XP_011513731.1:p.Lys435Glu
XM_011515430.1:c.1303A>G XP_011513732.1:p.Lys435Glu
NM_000535.6:c.1621A>G NP_000526.2:p.Lys541Glu
NM_001322003.1:c.1216A>G NP_001308932.1:p.Lys406Glu
NM_001322004.1:c.1216A>G NP_001308933.1:p.Lys406Glu
NM_001322005.1:c.1216A>G NP_001308934.1:p.Lys406Glu
NM_001322006.1:c.1465A>G NP_001308935.1:p.Lys489Glu
NM_001322007.1:c.1303A>G NP_001308936.1:p.Lys435Glu
NM_001322008.1:c.1303A>G NP_001308937.1:p.Lys435Glu
NM_001322009.1:c.1216A>G NP_001308938.1:p.Lys406Glu
NM_001322010.1:c.1060A>G NP_001308939.1:p.Lys354Glu
NM_001322011.1:c.688A>G NP_001308940.1:p.Lys230Glu
NM_001322012.1:c.688A>G NP_001308941.1:p.Lys230Glu
NM_001322013.1:c.1048A>G NP_001308942.1:p.Lys350Glu
NM_001322014.1:c.1621A>G NP_001308943.1:p.Lys541Glu
NM_001322015.1:c.1312A>G NP_001308944.1:p.Lys438Glu
NR_136154.1:n.1708A>G
XM_006715744.4:c.688A>G XP_006715807.1:p.Lys230Glu
XM_017012342.2:c.688A>G XP_016867831.1:p.Lys230Glu
XM_024446800.1:c.1060A>G XP_024302568.1:p.Lys354Glu
NM_000535.7:c.1621A>G MANE Select NP_000526.2:p.Lys541Glu
NM_001322003.2:c.1216A>G NP_001308932.1:p.Lys406Glu
NM_001322004.2:c.1216A>G NP_001308933.1:p.Lys406Glu
NM_001322005.2:c.1216A>G NP_001308934.1:p.Lys406Glu
NM_001322006.2:c.1465A>G NP_001308935.1:p.Lys489Glu
NM_001322008.2:c.1303A>G NP_001308937.1:p.Lys435Glu
NM_001322009.2:c.1216A>G NP_001308938.1:p.Lys406Glu
NM_001322010.2:c.1060A>G NP_001308939.1:p.Lys354Glu
NM_001322011.2:c.688A>G NP_001308940.1:p.Lys230Glu
NM_001322012.2:c.688A>G NP_001308941.1:p.Lys230Glu
NM_001322013.2:c.1048A>G NP_001308942.1:p.Lys350Glu
NM_001322014.2:c.1621A>G NP_001308943.1:p.Lys541Glu
NM_001322015.2:c.1312A>G NP_001308944.1:p.Lys438Glu
NM_001322007.2:c.1303A>G NP_001308936.1:p.Lys435Glu