Canonical Allele Identifier: CA915944840
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 801243
dbSNP Id: rs1583410952

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6004044_6004067delinsGGATC , CM000669.2:g.6004044_6004067delinsGGATC GRCh38
NC_000007.13:g.6043675_6043698delinsGGATC , CM000669.1:g.6043675_6043698delinsGGATC GRCh37
NC_000007.12:g.6010201_6010224delinsGGATC NCBI36
NG_008466.1:g.10040_10063delinsGATCC , LRG_161:g.10040_10063delinsGATCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.164-9_178delinsGATCC
ENST00000699840.2:c.164-9_178delinsGATCC
ENST00000699930.2:c.164-9_178delinsGATCC
ENST00000406569.8:c.164-9_178delinsGATCC
ENST00000415839.3:n.229-9_243delinsGATCC
ENST00000644110.2:c.164-9_178delinsGATCC
ENST00000699752.1:c.164-9_178delinsGATCC
ENST00000699753.1:c.-242-9_-228delinsGATCC
ENST00000699754.1:c.164-9_178delinsGATCC
ENST00000699755.1:c.-242-9_-228delinsGATCC
ENST00000699756.1:c.164-9_178delinsGATCC
ENST00000699757.1:c.-52-9_-38delinsGATCC
ENST00000699758.1:c.164-9_178delinsGATCC
ENST00000699759.1:n.236-9_250delinsGATCC
ENST00000699760.1:c.-52-9_-38delinsGATCC
ENST00000699761.1:c.-189-9_-175delinsGATCC
ENST00000699762.1:c.-242-9_-228delinsGATCC
ENST00000699763.1:c.-242-9_-228delinsGATCC
ENST00000699764.1:c.164-9_178delinsGATCC
ENST00000699765.1:c.-52-9_-38delinsGATCC
ENST00000699766.1:c.164-9_178delinsGATCC
ENST00000699767.1:c.164-9_178delinsGATCC
ENST00000699768.1:c.164-9_178delinsGATCC
ENST00000699769.1:n.244-9_258delinsGATCC
ENST00000699770.1:n.220-9_234delinsGATCC
ENST00000699811.1:c.-417-9_-403delinsGATCC
ENST00000699814.1:c.88-9_102delinsGATCC
ENST00000699815.1:c.-242-9_-228delinsGATCC
ENST00000699816.1:c.-242-9_-228delinsGATCC
ENST00000699817.1:c.164-1431_164-1408delinsGATCC ENSP00000514618.1:n.164-1431_164-1408delinsGATCC
ENST00000699818.1:c.-242-9_-228delinsGATCC
ENST00000699819.1:c.-255-9_-241delinsGATCC
ENST00000699820.1:c.164-9_178delinsGATCC
ENST00000699821.1:c.-242-9_-228delinsGATCC
ENST00000699822.1:c.-242-9_-228delinsGATCC
ENST00000699823.1:c.-189-9_-175delinsGATCC
ENST00000699824.1:c.164-9_178delinsGATCC
ENST00000699825.1:c.-242-9_-228delinsGATCC
ENST00000699826.1:c.-242-9_-228delinsGATCC
ENST00000699827.1:c.164-9_178delinsGATCC
ENST00000699828.1:c.164-9_178delinsGATCC
ENST00000699829.1:c.-189-9_-175delinsGATCC
ENST00000699830.1:c.164-9_178delinsGATCC
ENST00000699831.1:n.125-9_139delinsGATCC
ENST00000699833.1:n.244-9_258delinsGATCC
ENST00000699834.1:n.370-9_384delinsGATCC
ENST00000699837.1:c.-139-9_-125delinsGATCC
ENST00000699838.1:c.*64-9_*78delinsGATCC
ENST00000699839.1:c.350-9_364delinsGATCC
ENST00000699840.1:c.164-9_178delinsGATCC
ENST00000699916.1:c.-242-9_-228delinsGATCC
ENST00000699917.1:c.164-9_178delinsGATCC
ENST00000699918.1:c.164-9_178delinsGATCC
ENST00000699919.1:c.164-9_178delinsGATCC
ENST00000699920.1:c.164-9_178delinsGATCC
ENST00000699928.1:c.164-9_178delinsGATCC
ENST00000699929.1:c.164-9_178delinsGATCC
ENST00000699930.1:c.164-9_178delinsGATCC
ENST00000699931.1:n.275-9_289delinsGATCC
ENST00000699932.1:c.164-9_178delinsGATCC
ENST00000699933.1:n.244-9_258delinsGATCC
ENST00000699951.1:c.164-9_178delinsGATCC
ENST00000699952.1:c.164-9_178delinsGATCC
ENST00000699953.1:c.164-9_178delinsGATCC
ENST00000699954.1:c.164-9_178delinsGATCC
ENST00000703409.1:n.363-9_377delinsGATCC
ENST00000265849.12:c.164-9_178delinsGATCC
ENST00000642292.1:c.-242-9_-228delinsGATCC
ENST00000642456.1:c.-242-9_-228delinsGATCC
ENST00000643595.1:c.164-9_178delinsGATCC
ENST00000265849.11:c.164-9_178delinsGATCC
ENST00000380416.5:n.243-9_257delinsGATCC
ENST00000382321.5:c.164-9_178delinsGATCC
ENST00000406569.7:n.164-9_178delinsGATCC
ENST00000415839.2:n.176-9_190delinsGATCC
ENST00000441476.6:c.-52-9_-38delinsGATCC
ENST00000469652.1:n.62+1926_62+1949delinsGATCC
NM_000535.5:c.164-9_178delinsGATCC , LRG_161t1:c.164-9_178delinsGATCC
NR_003085.2:n.246-9_260delinsGATCC
XM_006715742.2:c.158-9_172delinsGATCC
XM_011515427.1:c.209-9_223delinsGATCC
XM_011515428.1:c.209-9_223delinsGATCC
XM_011515429.1:c.-52-9_-38delinsGATCC
XM_011515430.1:c.-52-9_-38delinsGATCC
NM_000535.6:c.164-9_178delinsGATCC
NM_001322003.1:c.-242-9_-228delinsGATCC
NM_001322004.1:c.-242-9_-228delinsGATCC
NM_001322005.1:c.-242-9_-228delinsGATCC
NM_001322006.1:c.164-9_178delinsGATCC
NM_001322007.1:c.-52-9_-38delinsGATCC
NM_001322008.1:c.-52-9_-38delinsGATCC
NM_001322009.1:c.-242-9_-228delinsGATCC
NM_001322010.1:c.-242-9_-228delinsGATCC
NM_001322011.1:c.-721-9_-707delinsGATCC
NM_001322012.1:c.-721-9_-707delinsGATCC
NM_001322013.1:c.-242-9_-228delinsGATCC
NM_001322014.1:c.164-9_178delinsGATCC
NM_001322015.1:c.-321-9_-307delinsGATCC
NR_136154.1:n.251-9_265delinsGATCC
XM_017012342.2:c.-621-9_-607delinsGATCC
XM_024446800.1:c.-242-9_-228delinsGATCC
NM_000535.7:c.164-9_178delinsGATCC
NM_001322003.2:c.-242-9_-228delinsGATCC
NM_001322004.2:c.-242-9_-228delinsGATCC
NM_001322005.2:c.-242-9_-228delinsGATCC
NM_001322006.2:c.164-9_178delinsGATCC
NM_001322008.2:c.-52-9_-38delinsGATCC
NM_001322009.2:c.-242-9_-228delinsGATCC
NM_001322010.2:c.-242-9_-228delinsGATCC
NM_001322011.2:c.-721-9_-707delinsGATCC
NM_001322012.2:c.-721-9_-707delinsGATCC
NM_001322013.2:c.-242-9_-228delinsGATCC
NM_001322014.2:c.164-9_178delinsGATCC
NM_001322015.2:c.-321-9_-307delinsGATCC
NM_001322007.2:c.-52-9_-38delinsGATCC