Canonical Allele Identifier: CA052604
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418758
dbSNP Id: rs143277125

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5992012G>T , CM000669.2:g.5992012G>T GRCh38
NC_000007.13:g.6031643G>T , CM000669.1:g.6031643G>T GRCh37
NC_000007.12:g.5998169G>T NCBI36
NG_008466.1:g.22095C>A , LRG_161:g.22095C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.949C>A MANE Select ENSP00000265849.7:p.Gln317Lys
ENST00000642292.1:c.544C>A ENSP00000495524.1:p.Gln182Lys
ENST00000642456.1:c.544C>A ENSP00000493814.1:p.Gln182Lys
ENST00000643595.1:c.*348C>A ENSP00000494497.1:p.=
ENST00000644110.1:n.631C>A ENSP00000496392.1:p.Gln211Lys
ENST00000265849.11:c.949C>A ENSP00000265849.7:p.Gln317Lys
ENST00000382321.5:n.803+5314C>A ENSP00000371758.4:p.=
ENST00000406569.7:n.949C>A
ENST00000441476.6:c.631C>A ENSP00000392843.2:p.Gln211Lys
ENST00000469652.1:n.63-9107C>A
NM_000535.5:c.949C>A , LRG_161t1:c.949C>A NP_000526.1:p.Gln317Lys
NR_003085.2:n.1031C>A
XM_006715742.2:c.943C>A XP_006715805.1:p.Gln315Lys
XM_006715744.2:c.16C>A XP_006715807.1:p.Gln6Lys
XM_011515427.1:c.994C>A XP_011513729.1:p.Gln332Lys
XM_011515428.1:c.994C>A XP_011513730.1:p.Gln332Lys
XM_011515429.1:c.631C>A XP_011513731.1:p.Gln211Lys
XM_011515430.1:c.631C>A XP_011513732.1:p.Gln211Lys
NM_000535.6:c.949C>A NP_000526.2:p.Gln317Lys
NM_001322003.1:c.544C>A NP_001308932.1:p.Gln182Lys
NM_001322004.1:c.544C>A NP_001308933.1:p.Gln182Lys
NM_001322005.1:c.544C>A NP_001308934.1:p.Gln182Lys
NM_001322006.1:c.949C>A NP_001308935.1:p.Gln317Lys
NM_001322007.1:c.631C>A NP_001308936.1:p.Gln211Lys
NM_001322008.1:c.631C>A NP_001308937.1:p.Gln211Lys
NM_001322009.1:c.544C>A NP_001308938.1:p.Gln182Lys
NM_001322010.1:c.544C>A NP_001308939.1:p.Gln182Lys
NM_001322011.1:c.16C>A NP_001308940.1:p.Gln6Lys
NM_001322012.1:c.16C>A NP_001308941.1:p.Gln6Lys
NM_001322013.1:c.376C>A NP_001308942.1:p.Gln126Lys
NM_001322014.1:c.949C>A NP_001308943.1:p.Gln317Lys
NM_001322015.1:c.640C>A NP_001308944.1:p.Gln214Lys
NR_136154.1:n.1036C>A
XM_006715744.4:c.16C>A XP_006715807.1:p.Gln6Lys
XM_017012342.2:c.16C>A XP_016867831.1:p.Gln6Lys
XM_024446800.1:c.544C>A XP_024302568.1:p.Gln182Lys
NM_000535.7:c.949C>A MANE Select NP_000526.2:p.Gln317Lys
NM_001322003.2:c.544C>A NP_001308932.1:p.Gln182Lys
NM_001322004.2:c.544C>A NP_001308933.1:p.Gln182Lys
NM_001322005.2:c.544C>A NP_001308934.1:p.Gln182Lys
NM_001322006.2:c.949C>A NP_001308935.1:p.Gln317Lys
NM_001322008.2:c.631C>A NP_001308937.1:p.Gln211Lys
NM_001322009.2:c.544C>A NP_001308938.1:p.Gln182Lys
NM_001322010.2:c.544C>A NP_001308939.1:p.Gln182Lys
NM_001322011.2:c.16C>A NP_001308940.1:p.Gln6Lys
NM_001322012.2:c.16C>A NP_001308941.1:p.Gln6Lys
NM_001322013.2:c.376C>A NP_001308942.1:p.Gln126Lys
NM_001322014.2:c.949C>A NP_001308943.1:p.Gln317Lys
NM_001322015.2:c.640C>A NP_001308944.1:p.Gln214Lys
NM_001322007.2:c.631C>A NP_001308936.1:p.Gln211Lys