LDH info

Canonical Allele Identifier: CA021321
Gene: NF2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3294
ClinVar RCV Id: RCV000003455
dbSNP Id: rs74315503

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29674882G>T , CM000684.2:g.29674882G>T GRCh38
NC_000022.10:g.30070871G>T , CM000684.1:g.30070871G>T GRCh37
NC_000022.9:g.28400871G>T NCBI36
NG_009057.1:g.76327G>T , LRG_511:g.76327G>T

Transcript Alleles

HGVS Amino-acid change
NM_000268.3:c.1387G>T , LRG_511t1:c.1387G>T NP_000259.1:p.Glu463Ter
NM_016418.5:c.1387G>T , LRG_511t2:c.1387G>T NP_057502.2:p.Glu463Ter
NM_181825.2:c.1387G>T VV NP_861546.1:p.Glu463Ter
NM_181828.2:c.1261G>T VV NP_861966.1:p.Glu421Ter
NM_181829.2:c.1264G>T VV NP_861967.1:p.Glu422Ter
NM_181830.2:c.1138G>T VV NP_861968.1:p.Glu380Ter
NM_181831.2:c.1138G>T VV NP_861969.1:p.Glu380Ter
NM_181832.2:c.1387G>T VV NP_861970.1:p.Glu463Ter
NM_181833.2:c.448-19870G>T VV NP_861971.1:p.=
NR_156186.1:n.1946G>T
XM_017028809.2:c.1273G>T XP_016884298.1:p.Glu425Ter
XM_017028810.1:c.1273G>T XP_016884299.1:p.Glu425Ter
NM_000268.4:c.1387G>T VV MANE Preferred NP_000259.1:p.Glu463Ter
NM_181825.3:c.1387G>T VV NP_861546.1:p.Glu463Ter
NM_181828.3:c.1261G>T VV NP_861966.1:p.Glu421Ter
NM_181829.3:c.1264G>T VV NP_861967.1:p.Glu422Ter
NM_181830.3:c.1138G>T VV NP_861968.1:p.Glu380Ter
NM_181831.3:c.1138G>T VV NP_861969.1:p.Glu380Ter
NM_181832.3:c.1387G>T VV NP_861970.1:p.Glu463Ter
NR_156186.2:n.1869G>T
ENST00000334961.11:c.1138G>T ENSP00000335652.7:p.Glu380Ter
ENST00000338641.8:c.1387G>T ENSP00000344666.4:p.Glu463Ter
ENST00000353887.8:c.1138G>T ENSP00000340626.4:p.Glu380Ter
ENST00000361166.8:n.1387G>T ENSP00000354529.4:p.Glu463Ter
ENST00000361452.8:c.1264G>T ENSP00000354897.4:p.Glu422Ter
ENST00000361676.8:n.1261G>T ENSP00000355183.4:p.Glu421Ter
ENST00000397789.3:n.1387G>T ENSP00000380891.3:p.Glu463Ter
ENST00000403435.5:c.1300G>T ENSP00000384029.1:p.Glu434Ter
ENST00000403999.7:c.1387G>T ENSP00000384797.3:p.Glu463Ter
ENST00000413209.6:c.448-19870G>T ENSP00000409921.2:p.=
ENST00000432151.5:c.569G>T ENSP00000395885.1:p.Arg190Leu