LDH info

Canonical Allele Identifier: CA281903
Gene: TGFB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 224873
ClinVar RCV Id: RCV000210478

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218437432_218437436del , CM000663.2:g.218437432_218437436del GRCh38
NC_000001.10:g.218610774_218610778del , CM000663.1:g.218610774_218610778del GRCh37
NC_000001.9:g.216677397_216677401del NCBI36
NG_027721.1:g.97099_97103del
NG_027721.2:g.97099_97103del

Transcript Alleles

HGVS Amino-acid change
NM_001135599.2:c.1106_1110del VV NP_001129071.1:p.Tyr369CysfsTer26
NM_003238.3:c.1022_1026del VV NP_003229.1:p.Tyr341CysfsTer26
NM_001135599.3:c.1106_1110del VV NP_001129071.1:p.Tyr369CysfsTer26
NM_003238.4:c.1022_1026del VV NP_003229.1:p.Tyr341CysfsTer26
NR_138148.1:n.2325_2329del
NR_138149.1:n.2409_2413del
NM_003238.5:c.1022_1026del VV NP_003229.1:p.Tyr341CysfsTer26
ENST00000366929.4:c.1106_1110del ENSP00000355896.4:p.Tyr369CysfsTer26
ENST00000366930.8:c.1022_1026del ENSP00000355897.4:p.Tyr341CysfsTer26
ENST00000479322.1:n.506_510del