Canonical Allele Identifier: CA011263
Gene: PMS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36689
dbSNP Id: rs17420802

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5977709T>C , CM000669.2:g.5977709T>C GRCh38
NC_000007.13:g.6017340T>C , CM000669.1:g.6017340T>C GRCh37
NC_000007.12:g.5983866T>C NCBI36
NG_008466.1:g.36398A>G , LRG_161:g.36398A>G

Transcript Alleles

HGVS Amino-acid change
NM_000535.5:c.2324A>G , LRG_161t1:c.2324A>G NP_000526.1:p.Asn775Ser
NR_003085.2:n.2406A>G
XM_006715742.2:c.2318A>G XP_006715805.1:p.Asn773Ser
XM_006715744.2:c.1391A>G XP_006715807.1:p.Asn464Ser
XM_011515427.1:c.2369A>G XP_011513729.1:p.Asn790Ser
XM_011515428.1:c.2213A>G XP_011513730.1:p.Asn738Ser
XM_011515429.1:c.2006A>G XP_011513731.1:p.Asn669Ser
XM_011515430.1:c.2006A>G XP_011513732.1:p.Asn669Ser
NM_000535.6:c.2324A>G VV NP_000526.2:p.Asn775Ser
NM_001322003.1:c.1919A>G VV NP_001308932.1:p.Asn640Ser
NM_001322004.1:c.1919A>G VV NP_001308933.1:p.Asn640Ser
NM_001322005.1:c.1919A>G VV NP_001308934.1:p.Asn640Ser
NM_001322006.1:c.2168A>G VV NP_001308935.1:p.Asn723Ser
NM_001322007.1:c.2006A>G VV NP_001308936.1:p.Asn669Ser
NM_001322008.1:c.2006A>G VV NP_001308937.1:p.Asn669Ser
NM_001322009.1:c.1952A>G VV NP_001308938.1:p.Asn651Ser
NM_001322010.1:c.1763A>G VV NP_001308939.1:p.Asn588Ser
NM_001322011.1:c.1391A>G VV NP_001308940.1:p.Asn464Ser
NM_001322012.1:c.1391A>G VV NP_001308941.1:p.Asn464Ser
NM_001322013.1:c.1751A>G VV NP_001308942.1:p.Asn584Ser
NM_001322014.1:c.2357A>G VV NP_001308943.1:p.Asn786Ser
NM_001322015.1:c.2015A>G VV NP_001308944.1:p.Asn672Ser
NR_136154.1:n.2368A>G
XM_006715744.4:c.1391A>G
XM_017012342.2:c.1391A>G XP_016867831.1:p.Asn464Ser
XM_024446800.1:c.1763A>G XP_024302568.1:p.Asn588Ser
NM_000535.7:c.2324A>G VV MANE Preferred
ENST00000265849.11:c.2324A>G ENSP00000265849.7:p.Asn775Ser
ENST00000382321.5:n.1121A>G ENSP00000371758.4:p.Asn374Ser
ENST00000406569.7:n.1684A>G
ENST00000441476.6:c.2006A>G ENSP00000392843.2:p.Asn669Ser