LDH info

Canonical Allele Identifier: CA1398399
Gene: TGFB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 382818
ClinVar RCV Id: RCV000428083
dbSNP Id: rs760759052

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346998C>T , CM000663.2:g.218346998C>T GRCh38
NC_000001.10:g.218520340C>T , CM000663.1:g.218520340C>T GRCh37
NC_000001.9:g.216586963C>T NCBI36
NG_027721.1:g.6665C>T
NG_027721.2:g.6665C>T

Transcript Alleles

HGVS Amino-acid change
NM_001135599.2:c.297C>T VV NP_001129071.1:p.Tyr99=
NM_003238.3:c.297C>T VV NP_003229.1:p.Tyr99=
NM_001135599.3:c.297C>T VV NP_001129071.1:p.Tyr99=
NM_003238.4:c.297C>T VV NP_003229.1:p.Tyr99=
NR_138148.1:n.1715C>T
NR_138149.1:n.1715C>T
NM_003238.5:c.297C>T VV NP_003229.1:p.Tyr99=
ENST00000366929.4:c.297C>T ENSP00000355896.4:p.Tyr99=
ENST00000366930.8:c.297C>T ENSP00000355897.4:p.Tyr99=