LDH info

Canonical Allele Identifier: CA16042841
Gene: GRIN2B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373637
ClinVar RCV Id: RCV000413196
dbSNP Id: rs1057518520

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13564229_13564232dup , CM000674.2:g.13564229_13564232dup GRCh38
NC_000012.11:g.13717163_13717166dup , CM000674.1:g.13717163_13717166dup GRCh37
NC_000012.10:g.13608430_13608433dup NCBI36
NG_031854.1:g.420857_420860dup
NG_031854.2:g.422781_422784dup

Transcript Alleles

HGVS Amino-acid change
NM_000834.3:c.3006_3009dup VV NP_000825.2:p.Tyr1004AlafsTer5
XM_005253351.2:c.792_795dup XP_005253408.1:p.Tyr266AlafsTer5
XM_011520628.1:c.3006_3009dup XP_011518930.1:p.Tyr1004AlafsTer5
XM_011520629.1:c.3006_3009dup XP_011518931.1:p.Tyr1004AlafsTer5
XM_011520630.1:c.3006_3009dup XP_011518932.1:p.Tyr1004AlafsTer5
NM_000834.4:c.3006_3009dup VV NP_000825.2:p.Tyr1004AlafsTer5
XM_005253351.3:c.792_795dup XP_005253408.1:p.Tyr266AlafsTer5
XM_011520628.2:c.3006_3009dup XP_011518930.1:p.Tyr1004AlafsTer5
XM_011520629.2:c.3006_3009dup XP_011518931.1:p.Tyr1004AlafsTer5
XM_017019219.2:c.3006_3009dup XP_016874708.1:p.Tyr1004AlafsTer5
NM_000834.5:c.3006_3009dup VV MANE Preferred NP_000825.2:p.Tyr1004AlafsTer5
ENST00000609686.3:c.3006_3009dup ENSP00000477455.1:p.Tyr1004AlafsTer5
ENST00000628166.1:n.1266_1269dup