Canonical Allele Identifier: CA16040598
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9244
dbSNP Id: rs1057515572

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987033_5987034delinsACT , CM000669.2:g.5987033_5987034delinsACT GRCh38
NC_000007.13:g.6026664_6026665delinsACT , CM000669.1:g.6026664_6026665delinsACT GRCh37
NC_000007.12:g.5993190_5993191delinsACT NCBI36
NG_008466.1:g.27073_27074delinsAGT , LRG_161:g.27073_27074delinsAGT

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.1731_1732delinsAGT MANE Select ENSP00000265849.7:p.Arg578ValfsTer3
ENST00000642292.1:c.1326_1327delinsAGT ENSP00000495524.1:p.Arg443ValfsTer3
ENST00000642456.1:c.1326_1327delinsAGT ENSP00000493814.1:p.Arg443ValfsTer3
ENST00000643595.1:c.*1130_*1131delinsAGT ENSP00000494497.1:p.=
ENST00000644110.1:n.1413_1414delinsAGT ENSP00000496392.1:p.Arg472ValfsTer3
ENST00000265849.11:c.1731_1732delinsAGT ENSP00000265849.7:p.Arg578ValfsTer3
ENST00000382321.5:n.804-4043_804-4042delinsAGT ENSP00000371758.4:p.=
ENST00000406569.7:n.1678+53_1678+54delinsAGT
ENST00000441476.6:c.1413_1414delinsAGT ENSP00000392843.2:p.Arg472ValfsTer3
ENST00000469652.1:n.63-4129_63-4128delinsAGT
NM_000535.5:c.1731_1732delinsAGT , LRG_161t1:c.1731_1732delinsAGT NP_000526.1:p.Arg578ValfsTer3
NR_003085.2:n.1813_1814delinsAGT
XM_006715742.2:c.1725_1726delinsAGT XP_006715805.1:p.Arg576ValfsTer3
XM_006715744.2:c.798_799delinsAGT XP_006715807.1:p.Arg267ValfsTer3
XM_011515427.1:c.1776_1777delinsAGT XP_011513729.1:p.Arg593ValfsTer3
XM_011515428.1:c.1620_1621delinsAGT XP_011513730.1:p.Arg541ValfsTer3
XM_011515429.1:c.1413_1414delinsAGT XP_011513731.1:p.Arg472ValfsTer3
XM_011515430.1:c.1413_1414delinsAGT XP_011513732.1:p.Arg472ValfsTer3
NM_000535.6:c.1731_1732delinsAGT NP_000526.2:p.Arg578ValfsTer3
NM_001322003.1:c.1326_1327delinsAGT NP_001308932.1:p.Arg443ValfsTer3
NM_001322004.1:c.1326_1327delinsAGT NP_001308933.1:p.Arg443ValfsTer3
NM_001322005.1:c.1326_1327delinsAGT NP_001308934.1:p.Arg443ValfsTer3
NM_001322006.1:c.1575_1576delinsAGT NP_001308935.1:p.Arg526ValfsTer3
NM_001322007.1:c.1413_1414delinsAGT NP_001308936.1:p.Arg472ValfsTer3
NM_001322008.1:c.1413_1414delinsAGT NP_001308937.1:p.Arg472ValfsTer3
NM_001322009.1:c.1326_1327delinsAGT NP_001308938.1:p.Arg443ValfsTer3
NM_001322010.1:c.1170_1171delinsAGT NP_001308939.1:p.Arg391ValfsTer3
NM_001322011.1:c.798_799delinsAGT NP_001308940.1:p.Arg267ValfsTer3
NM_001322012.1:c.798_799delinsAGT NP_001308941.1:p.Arg267ValfsTer3
NM_001322013.1:c.1158_1159delinsAGT NP_001308942.1:p.Arg387ValfsTer3
NM_001322014.1:c.1731_1732delinsAGT NP_001308943.1:p.Arg578ValfsTer3
NM_001322015.1:c.1422_1423delinsAGT NP_001308944.1:p.Arg475ValfsTer3
NR_136154.1:n.1818_1819delinsAGT
XM_006715744.4:c.798_799delinsAGT XP_006715807.1:p.Arg267ValfsTer3
XM_017012342.2:c.798_799delinsAGT XP_016867831.1:p.Arg267ValfsTer3
XM_024446800.1:c.1170_1171delinsAGT XP_024302568.1:p.Arg391ValfsTer3
NM_000535.7:c.1731_1732delinsAGT MANE Select NP_000526.2:p.Arg578ValfsTer3
NM_001322003.2:c.1326_1327delinsAGT NP_001308932.1:p.Arg443ValfsTer3
NM_001322004.2:c.1326_1327delinsAGT NP_001308933.1:p.Arg443ValfsTer3
NM_001322005.2:c.1326_1327delinsAGT NP_001308934.1:p.Arg443ValfsTer3
NM_001322006.2:c.1575_1576delinsAGT NP_001308935.1:p.Arg526ValfsTer3
NM_001322008.2:c.1413_1414delinsAGT NP_001308937.1:p.Arg472ValfsTer3
NM_001322009.2:c.1326_1327delinsAGT NP_001308938.1:p.Arg443ValfsTer3
NM_001322010.2:c.1170_1171delinsAGT NP_001308939.1:p.Arg391ValfsTer3
NM_001322011.2:c.798_799delinsAGT NP_001308940.1:p.Arg267ValfsTer3
NM_001322012.2:c.798_799delinsAGT NP_001308941.1:p.Arg267ValfsTer3
NM_001322013.2:c.1158_1159delinsAGT NP_001308942.1:p.Arg387ValfsTer3
NM_001322014.2:c.1731_1732delinsAGT NP_001308943.1:p.Arg578ValfsTer3
NM_001322015.2:c.1422_1423delinsAGT NP_001308944.1:p.Arg475ValfsTer3
NM_001322007.2:c.1413_1414delinsAGT NP_001308936.1:p.Arg472ValfsTer3