LDH info

Canonical Allele Identifier: CA16618531
Gene: PMS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 418685
ClinVar RCV Id: RCV000487284
dbSNP Id: rs1064793365

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6002480del , CM000669.2:g.6002480del GRCh38
NC_000007.13:g.6042111del , CM000669.1:g.6042111del GRCh37
NC_000007.12:g.6008637del NCBI36
NG_008466.1:g.11627del , LRG_161:g.11627del

Transcript Alleles

HGVS Amino-acid change
NM_000535.5:c.510del , LRG_161t1:c.510del NP_000526.1:p.His170GlnfsTer?
NR_003085.2:n.592del
XM_006715742.2:c.504del XP_006715805.1:p.His168GlnfsTer?
XM_011515427.1:c.555del XP_011513729.1:p.His185GlnfsTer?
XM_011515428.1:c.555del XP_011513730.1:p.His185GlnfsTer?
XM_011515429.1:c.192del XP_011513731.1:p.His64GlnfsTer?
XM_011515430.1:c.192del XP_011513732.1:p.His64GlnfsTer?
NM_000535.6:c.510del VV NP_000526.2:p.His170GlnfsTer?
NM_001322003.1:c.105del VV NP_001308932.1:p.His35GlnfsTer?
NM_001322004.1:c.105del VV NP_001308933.1:p.His35GlnfsTer?
NM_001322005.1:c.105del VV NP_001308934.1:p.His35GlnfsTer?
NM_001322006.1:c.510del VV NP_001308935.1:p.His170GlnfsTer?
NM_001322007.1:c.192del VV NP_001308936.1:p.His64GlnfsTer?
NM_001322008.1:c.192del VV NP_001308937.1:p.His64GlnfsTer?
NM_001322009.1:c.105del VV NP_001308938.1:p.His35GlnfsTer?
NM_001322010.1:c.105del VV NP_001308939.1:p.His35GlnfsTer?
NM_001322011.1:c.-375del VV NP_001308940.1:p.=
NM_001322012.1:c.-375del VV NP_001308941.1:p.=
NM_001322013.1:c.105del VV NP_001308942.1:p.His35GlnfsTer?
NM_001322014.1:c.510del VV NP_001308943.1:p.His170GlnfsTer?
NM_001322015.1:c.201del VV NP_001308944.1:p.His67GlnfsTer?
NR_136154.1:n.597del
XM_017012342.2:c.-275del XP_016867831.1:p.=
XM_024446800.1:c.105del XP_024302568.1:p.His35GlnfsTer?
NM_000535.7:c.510del VV MANE Preferred NP_000526.2:p.His170GlnfsTer?
NM_001322003.2:c.105del VV NP_001308932.1:p.His35GlnfsTer?
NM_001322004.2:c.105del VV NP_001308933.1:p.His35GlnfsTer?
NM_001322005.2:c.105del VV NP_001308934.1:p.His35GlnfsTer?
NM_001322006.2:c.510del VV NP_001308935.1:p.His170GlnfsTer?
NM_001322008.2:c.192del VV NP_001308937.1:p.His64GlnfsTer?
NM_001322009.2:c.105del VV NP_001308938.1:p.His35GlnfsTer?
NM_001322010.2:c.105del VV NP_001308939.1:p.His35GlnfsTer?
NM_001322011.2:c.-375del VV NP_001308940.1:p.=
NM_001322012.2:c.-375del VV NP_001308941.1:p.=
NM_001322013.2:c.105del VV NP_001308942.1:p.His35GlnfsTer?
NM_001322014.2:c.510del VV NP_001308943.1:p.His170GlnfsTer?
NM_001322015.2:c.201del VV NP_001308944.1:p.His67GlnfsTer?
NM_001322007.2:c.192del VV NP_001308936.1:p.His64GlnfsTer?
ENST00000265849.11:c.510del ENSP00000265849.7:p.His170GlnfsTer?
ENST00000380416.5:n.589del
ENST00000382321.5:n.510del ENSP00000371758.4:p.His170GlnfsTer?
ENST00000406569.7:n.510del
ENST00000441476.6:c.192del ENSP00000392843.2:p.His64GlnfsTer?
ENST00000469652.1:n.62+3513del