LDH info

Canonical Allele Identifier: CA16042629
Gene: TAB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373469
ClinVar RCV Id: RCV000413051
dbSNP Id: rs1057518437

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.149378166C>A , CM000668.2:g.149378166C>A GRCh38
NC_000006.11:g.149699302C>A , CM000668.1:g.149699302C>A GRCh37
NC_000006.10:g.149740995C>A NCBI36
NG_021386.1:g.64867C>A
NG_021386.2:g.165243C>A

Transcript Alleles

HGVS Amino-acid change
NM_001292034.2:c.251C>A VV NP_001278963.1:p.Ser84Ter
NM_001292035.2:c.155C>A VV NP_001278964.1:p.Ser52Ter
NM_015093.5:c.251C>A VV NP_055908.1:p.Ser84Ter
XM_006715403.2:c.251C>A XP_006715466.1:p.Ser84Ter
XM_011535633.1:c.251C>A XP_011533935.1:p.Ser84Ter
XM_011535634.1:c.251C>A XP_011533936.1:p.Ser84Ter
XM_011535633.2:c.251C>A XP_011533935.1:p.Ser84Ter
XM_017010591.1:c.251C>A XP_016866080.1:p.Ser84Ter
XM_017010592.2:c.251C>A XP_016866081.1:p.Ser84Ter
NM_001292034.3:c.251C>A VV MANE Preferred NP_001278963.1:p.Ser84Ter
NM_001292035.3:c.155C>A VV NP_001278964.1:p.Ser52Ter
NM_001369506.1:c.251C>A VV NP_001356435.1:p.Ser84Ter
ENST00000367456.5:c.251C>A ENSP00000356426.1:p.Ser84Ter
ENST00000470466.5:c.251C>A ENSP00000432709.1:p.Ser84Ter
ENST00000538427.5:c.251C>A ENSP00000445752.1:p.Ser84Ter
ENST00000606202.1:c.29C>A ENSP00000476139.1:p.Ser10Ter