Canonical Allele Identifier: CA366737980
Gene: PMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982890G>C , CM000669.2:g.5982890G>C GRCh38
NC_000007.13:g.6022521G>C , CM000669.1:g.6022521G>C GRCh37
NC_000007.12:g.5989047G>C NCBI36
NG_008466.1:g.31217C>G , LRG_161:g.31217C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.2108C>G MANE Select ENSP00000265849.7:p.Thr703Arg
ENST00000642292.1:c.1703C>G ENSP00000495524.1:p.Thr568Arg
ENST00000642456.1:c.1703C>G ENSP00000493814.1:p.Thr568Arg
ENST00000643595.1:c.*1507C>G ENSP00000494497.1:p.=
ENST00000644110.1:n.1790C>G ENSP00000496392.1:p.Thr597Arg
ENST00000265849.11:c.2108C>G ENSP00000265849.7:p.Thr703Arg
ENST00000382321.5:n.905C>G ENSP00000371758.4:p.Thr302Arg
ENST00000406569.7:n.1678+4197C>G
ENST00000441476.6:c.1790C>G ENSP00000392843.2:p.Thr597Arg
ENST00000469652.1:n.78C>G
NM_000535.5:c.2108C>G , LRG_161t1:c.2108C>G NP_000526.1:p.Thr703Arg
NR_003085.2:n.2190C>G
XM_006715742.2:c.2102C>G XP_006715805.1:p.Thr701Arg
XM_006715744.2:c.1175C>G XP_006715807.1:p.Thr392Arg
XM_011515427.1:c.2153C>G XP_011513729.1:p.Thr718Arg
XM_011515428.1:c.1997C>G XP_011513730.1:p.Thr666Arg
XM_011515429.1:c.1790C>G XP_011513731.1:p.Thr597Arg
XM_011515430.1:c.1790C>G XP_011513732.1:p.Thr597Arg
NM_000535.6:c.2108C>G NP_000526.2:p.Thr703Arg
NM_001322003.1:c.1703C>G NP_001308932.1:p.Thr568Arg
NM_001322004.1:c.1703C>G NP_001308933.1:p.Thr568Arg
NM_001322005.1:c.1703C>G NP_001308934.1:p.Thr568Arg
NM_001322006.1:c.1952C>G NP_001308935.1:p.Thr651Arg
NM_001322007.1:c.1790C>G NP_001308936.1:p.Thr597Arg
NM_001322008.1:c.1790C>G NP_001308937.1:p.Thr597Arg
NM_001322009.1:c.1703C>G NP_001308938.1:p.Thr568Arg
NM_001322010.1:c.1547C>G NP_001308939.1:p.Thr516Arg
NM_001322011.1:c.1175C>G NP_001308940.1:p.Thr392Arg
NM_001322012.1:c.1175C>G NP_001308941.1:p.Thr392Arg
NM_001322013.1:c.1535C>G NP_001308942.1:p.Thr512Arg
NM_001322014.1:c.2108C>G NP_001308943.1:p.Thr703Arg
NM_001322015.1:c.1799C>G NP_001308944.1:p.Thr600Arg
NR_136154.1:n.2195C>G
XM_006715744.4:c.1175C>G XP_006715807.1:p.Thr392Arg
XM_017012342.2:c.1175C>G XP_016867831.1:p.Thr392Arg
XM_024446800.1:c.1547C>G XP_024302568.1:p.Thr516Arg
NM_000535.7:c.2108C>G MANE Select NP_000526.2:p.Thr703Arg
NM_001322003.2:c.1703C>G NP_001308932.1:p.Thr568Arg
NM_001322004.2:c.1703C>G NP_001308933.1:p.Thr568Arg
NM_001322005.2:c.1703C>G NP_001308934.1:p.Thr568Arg
NM_001322006.2:c.1952C>G NP_001308935.1:p.Thr651Arg
NM_001322008.2:c.1790C>G NP_001308937.1:p.Thr597Arg
NM_001322009.2:c.1703C>G NP_001308938.1:p.Thr568Arg
NM_001322010.2:c.1547C>G NP_001308939.1:p.Thr516Arg
NM_001322011.2:c.1175C>G NP_001308940.1:p.Thr392Arg
NM_001322012.2:c.1175C>G NP_001308941.1:p.Thr392Arg
NM_001322013.2:c.1535C>G NP_001308942.1:p.Thr512Arg
NM_001322014.2:c.2108C>G NP_001308943.1:p.Thr703Arg
NM_001322015.2:c.1799C>G NP_001308944.1:p.Thr600Arg
NM_001322007.2:c.1790C>G NP_001308936.1:p.Thr597Arg