LDH info

Canonical Allele Identifier: CA11482321
Gene: GATA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 539725
ClinVar RCV Id: RCV000649507
dbSNP Id: rs2713604

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481616T>C , CM000665.2:g.128481616T>C GRCh38
NC_000003.11:g.128200459T>C , CM000665.1:g.128200459T>C GRCh37
NC_000003.10:g.129683149T>C NCBI36
NG_029334.1:g.16572A>G , LRG_295:g.16572A>G

Transcript Alleles

HGVS Amino-acid change
NM_001145661.1:c.1143+203A>G , LRG_295t1:c.1143+203A>G NP_001139133.1:p.=
NM_001145662.1:c.1101+203A>G VV NP_001139134.1:p.=
NM_032638.4:c.1143+203A>G , LRG_295t2:c.1143+203A>G NP_116027.2:p.=
NM_001145661.2:c.1143+203A>G VV NP_001139133.1:p.=
NM_032638.5:c.1143+203A>G VV MANE Preferred NP_116027.2:p.=
ENST00000341105.6:c.1143+203A>G ENSP00000345681.2:p.=
ENST00000430265.6:c.1101+203A>G ENSP00000400259.2:p.=
ENST00000487848.5:c.1143+203A>G ENSP00000417074.1:p.=
ENST00000489987.1:n.260+203A>G