LDH info

Canonical Allele Identifier: CA16042788
Gene: GRIN2B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373732
ClinVar RCV Id: RCV000414287
dbSNP Id: rs1057518577

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13611722_13611723delinsAC , CM000674.2:g.13611722_13611723delinsAC GRCh38
NC_000012.11:g.13764656_13764657delinsAC , CM000674.1:g.13764656_13764657delinsAC GRCh37
NC_000012.10:g.13655923_13655924delinsAC NCBI36
NG_031854.1:g.373366_373367delinsGT
NG_031854.2:g.375290_375291delinsGT

Transcript Alleles

HGVS Amino-acid change
NM_000834.3:c.1780+2_1780+3delinsGT VV NP_000825.2:p.=
XM_011520628.1:c.1780+2_1780+3delinsGT XP_011518930.1:p.=
XM_011520629.1:c.1780+2_1780+3delinsGT XP_011518931.1:p.=
XM_011520630.1:c.1780+2_1780+3delinsGT XP_011518932.1:p.=
XR_931372.1:n.179-3376_179-3375delinsAC
XR_931373.1:n.318+2965_318+2966delinsAC
XR_931374.1:n.117+1122_117+1123delinsAC
NM_000834.4:c.1780+2_1780+3delinsGT VV NP_000825.2:p.=
XM_011520628.2:c.1780+2_1780+3delinsGT XP_011518930.1:p.=
XM_011520629.2:c.1780+2_1780+3delinsGT XP_011518931.1:p.=
XM_017019219.2:c.1780+2_1780+3delinsGT XP_016874708.1:p.=
XR_001749013.1:n.599+1122_599+1123delinsAC
XR_931372.2:n.316-3376_316-3375delinsAC
XR_931373.2:n.457+2965_457+2966delinsAC
ENST00000609686.3:c.1780+2_1780+3delinsGT ENSP00000477455.1:p.=