Canonical Allele Identifier: CA366737991
Gene: PMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982895A>T , CM000669.2:g.5982895A>T GRCh38
NC_000007.13:g.6022526A>T , CM000669.1:g.6022526A>T GRCh37
NC_000007.12:g.5989052A>T NCBI36
NG_008466.1:g.31212T>A , LRG_161:g.31212T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.2103T>A MANE Select ENSP00000265849.7:p.His701Gln
ENST00000642292.1:c.1698T>A ENSP00000495524.1:p.His566Gln
ENST00000642456.1:c.1698T>A ENSP00000493814.1:p.His566Gln
ENST00000643595.1:c.*1502T>A ENSP00000494497.1:p.=
ENST00000644110.1:n.1785T>A ENSP00000496392.1:p.His595Gln
ENST00000265849.11:c.2103T>A ENSP00000265849.7:p.His701Gln
ENST00000382321.5:n.900T>A ENSP00000371758.4:p.His300Gln
ENST00000406569.7:n.1678+4192T>A
ENST00000441476.6:c.1785T>A ENSP00000392843.2:p.His595Gln
ENST00000469652.1:n.73T>A
NM_000535.5:c.2103T>A , LRG_161t1:c.2103T>A NP_000526.1:p.His701Gln
NR_003085.2:n.2185T>A
XM_006715742.2:c.2097T>A XP_006715805.1:p.His699Gln
XM_006715744.2:c.1170T>A XP_006715807.1:p.His390Gln
XM_011515427.1:c.2148T>A XP_011513729.1:p.His716Gln
XM_011515428.1:c.1992T>A XP_011513730.1:p.His664Gln
XM_011515429.1:c.1785T>A XP_011513731.1:p.His595Gln
XM_011515430.1:c.1785T>A XP_011513732.1:p.His595Gln
NM_000535.6:c.2103T>A NP_000526.2:p.His701Gln
NM_001322003.1:c.1698T>A NP_001308932.1:p.His566Gln
NM_001322004.1:c.1698T>A NP_001308933.1:p.His566Gln
NM_001322005.1:c.1698T>A NP_001308934.1:p.His566Gln
NM_001322006.1:c.1947T>A NP_001308935.1:p.His649Gln
NM_001322007.1:c.1785T>A NP_001308936.1:p.His595Gln
NM_001322008.1:c.1785T>A NP_001308937.1:p.His595Gln
NM_001322009.1:c.1698T>A NP_001308938.1:p.His566Gln
NM_001322010.1:c.1542T>A NP_001308939.1:p.His514Gln
NM_001322011.1:c.1170T>A NP_001308940.1:p.His390Gln
NM_001322012.1:c.1170T>A NP_001308941.1:p.His390Gln
NM_001322013.1:c.1530T>A NP_001308942.1:p.His510Gln
NM_001322014.1:c.2103T>A NP_001308943.1:p.His701Gln
NM_001322015.1:c.1794T>A NP_001308944.1:p.His598Gln
NR_136154.1:n.2190T>A
XM_006715744.4:c.1170T>A XP_006715807.1:p.His390Gln
XM_017012342.2:c.1170T>A XP_016867831.1:p.His390Gln
XM_024446800.1:c.1542T>A XP_024302568.1:p.His514Gln
NM_000535.7:c.2103T>A MANE Select NP_000526.2:p.His701Gln
NM_001322003.2:c.1698T>A NP_001308932.1:p.His566Gln
NM_001322004.2:c.1698T>A NP_001308933.1:p.His566Gln
NM_001322005.2:c.1698T>A NP_001308934.1:p.His566Gln
NM_001322006.2:c.1947T>A NP_001308935.1:p.His649Gln
NM_001322008.2:c.1785T>A NP_001308937.1:p.His595Gln
NM_001322009.2:c.1698T>A NP_001308938.1:p.His566Gln
NM_001322010.2:c.1542T>A NP_001308939.1:p.His514Gln
NM_001322011.2:c.1170T>A NP_001308940.1:p.His390Gln
NM_001322012.2:c.1170T>A NP_001308941.1:p.His390Gln
NM_001322013.2:c.1530T>A NP_001308942.1:p.His510Gln
NM_001322014.2:c.2103T>A NP_001308943.1:p.His701Gln
NM_001322015.2:c.1794T>A NP_001308944.1:p.His598Gln
NM_001322007.2:c.1785T>A NP_001308936.1:p.His595Gln