LDH info

Canonical Allele Identifier: CA281900
Gene: TGFB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 37086
dbSNP Id: rs398122883

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346995_218347009del , CM000663.2:g.218346995_218347009del GRCh38
NC_000001.10:g.218520337_218520351del , CM000663.1:g.218520337_218520351del GRCh37
NC_000001.9:g.216586960_216586974del NCBI36
NG_027721.1:g.6662_6676del
NG_027721.2:g.6662_6676del

Transcript Alleles

HGVS Amino-acid change
NM_001135599.2:c.294_308del VV NP_001129071.1:p.Tyr99_Val103del
NM_003238.3:c.294_308del VV NP_003229.1:p.Tyr99_Val103del
NM_001135599.3:c.294_308del VV NP_001129071.1:p.Tyr99_Val103del
NM_003238.4:c.294_308del VV NP_003229.1:p.Tyr99_Val103del
NR_138148.1:n.1712_1726del
NR_138149.1:n.1712_1726del
NM_003238.5:c.294_308del VV NP_003229.1:p.Tyr99_Val103del
NM_003238.6:c.294_308del VV MANE Preferred NP_003229.1:p.Tyr99_Val103del
ENST00000366929.4:c.294_308del ENSP00000355896.4:p.Tyr99_Val103del
ENST00000366930.8:c.294_308del ENSP00000355897.4:p.Tyr99_Val103del