LDH info

Canonical Allele Identifier: CA3499119
Gene: SH3TC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 246532
ClinVar RCV Id: RCV000235976
dbSNP Id: rs749963147

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027932_149027935dup , CM000667.2:g.149027932_149027935dup GRCh38
NC_000005.9:g.148407495_148407498dup , CM000667.1:g.148407495_148407498dup GRCh37
NC_000005.8:g.148387688_148387691dup NCBI36
NG_007947.2:g.40240_40243dup , LRG_269:g.40240_40243dup

Transcript Alleles

HGVS Amino-acid change
NM_024577.3:c.1797_1800dup , LRG_269t1:c.1797_1800dup NP_078853.2:p.Cys601GlyfsTer5
ENST00000323829.9:c.*1185_*1188dup ENSP00000313025.5:p.=
ENST00000504517.5:n.1327_1330dup ENSP00000421779.1:p.=
ENST00000504690.5:c.1797_1800dup ENSP00000425627.1:p.Cys601GlyfsTer5
ENST00000510779.1:n.847_850dup
ENST00000511307.5:c.*1577_*1580dup ENSP00000421420.1:p.=
ENST00000512049.5:c.1776_1779dup ENSP00000421860.1:p.Cys594GlyfsTer5
ENST00000513604.5:c.*1185_*1188dup ENSP00000423111.1:p.=
ENST00000515425.5:c.1797_1800dup ENSP00000423660.1:p.Cys601GlyfsTer5