Canonical Allele Identifier: CA046594
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411077
ClinVar RCV Id: RCV000477635
dbSNP Id: rs763866879

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982897G>A , CM000669.2:g.5982897G>A GRCh38
NC_000007.13:g.6022528G>A , CM000669.1:g.6022528G>A GRCh37
NC_000007.12:g.5989054G>A NCBI36
NG_008466.1:g.31210C>T , LRG_161:g.31210C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.2101C>T MANE Select ENSP00000265849.7:p.His701Tyr
ENST00000642292.1:c.1696C>T ENSP00000495524.1:p.His566Tyr
ENST00000642456.1:c.1696C>T ENSP00000493814.1:p.His566Tyr
ENST00000643595.1:c.*1500C>T ENSP00000494497.1:p.=
ENST00000644110.1:n.1783C>T ENSP00000496392.1:p.His595Tyr
ENST00000265849.11:c.2101C>T ENSP00000265849.7:p.His701Tyr
ENST00000382321.5:n.898C>T ENSP00000371758.4:p.His300Tyr
ENST00000406569.7:n.1678+4190C>T
ENST00000441476.6:c.1783C>T ENSP00000392843.2:p.His595Tyr
ENST00000469652.1:n.71C>T
NM_000535.5:c.2101C>T , LRG_161t1:c.2101C>T NP_000526.1:p.His701Tyr
NR_003085.2:n.2183C>T
XM_006715742.2:c.2095C>T XP_006715805.1:p.His699Tyr
XM_006715744.2:c.1168C>T XP_006715807.1:p.His390Tyr
XM_011515427.1:c.2146C>T XP_011513729.1:p.His716Tyr
XM_011515428.1:c.1990C>T XP_011513730.1:p.His664Tyr
XM_011515429.1:c.1783C>T XP_011513731.1:p.His595Tyr
XM_011515430.1:c.1783C>T XP_011513732.1:p.His595Tyr
NM_000535.6:c.2101C>T NP_000526.2:p.His701Tyr
NM_001322003.1:c.1696C>T NP_001308932.1:p.His566Tyr
NM_001322004.1:c.1696C>T NP_001308933.1:p.His566Tyr
NM_001322005.1:c.1696C>T NP_001308934.1:p.His566Tyr
NM_001322006.1:c.1945C>T NP_001308935.1:p.His649Tyr
NM_001322007.1:c.1783C>T NP_001308936.1:p.His595Tyr
NM_001322008.1:c.1783C>T NP_001308937.1:p.His595Tyr
NM_001322009.1:c.1696C>T NP_001308938.1:p.His566Tyr
NM_001322010.1:c.1540C>T NP_001308939.1:p.His514Tyr
NM_001322011.1:c.1168C>T NP_001308940.1:p.His390Tyr
NM_001322012.1:c.1168C>T NP_001308941.1:p.His390Tyr
NM_001322013.1:c.1528C>T NP_001308942.1:p.His510Tyr
NM_001322014.1:c.2101C>T NP_001308943.1:p.His701Tyr
NM_001322015.1:c.1792C>T NP_001308944.1:p.His598Tyr
NR_136154.1:n.2188C>T
XM_006715744.4:c.1168C>T XP_006715807.1:p.His390Tyr
XM_017012342.2:c.1168C>T XP_016867831.1:p.His390Tyr
XM_024446800.1:c.1540C>T XP_024302568.1:p.His514Tyr
NM_000535.7:c.2101C>T MANE Select NP_000526.2:p.His701Tyr
NM_001322003.2:c.1696C>T NP_001308932.1:p.His566Tyr
NM_001322004.2:c.1696C>T NP_001308933.1:p.His566Tyr
NM_001322005.2:c.1696C>T NP_001308934.1:p.His566Tyr
NM_001322006.2:c.1945C>T NP_001308935.1:p.His649Tyr
NM_001322008.2:c.1783C>T NP_001308937.1:p.His595Tyr
NM_001322009.2:c.1696C>T NP_001308938.1:p.His566Tyr
NM_001322010.2:c.1540C>T NP_001308939.1:p.His514Tyr
NM_001322011.2:c.1168C>T NP_001308940.1:p.His390Tyr
NM_001322012.2:c.1168C>T NP_001308941.1:p.His390Tyr
NM_001322013.2:c.1528C>T NP_001308942.1:p.His510Tyr
NM_001322014.2:c.2101C>T NP_001308943.1:p.His701Tyr
NM_001322015.2:c.1792C>T NP_001308944.1:p.His598Tyr
NM_001322007.2:c.1783C>T NP_001308936.1:p.His595Tyr