LDH info

Canonical Allele Identifier: CA020649
Gene: TGFBR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12518
ClinVar RCV Id: RCV000013343
dbSNP Id: rs104893818

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674130C>T , CM000665.2:g.30674130C>T GRCh38
NC_000003.11:g.30715622C>T , CM000665.1:g.30715622C>T GRCh37
NC_000003.10:g.30690626C>T NCBI36
NG_007490.1:g.72629C>T , LRG_779:g.72629C>T

Transcript Alleles

HGVS Amino-acid change
NM_001024847.2:c.1355C>T , LRG_779t1:c.1355C>T NP_001020018.1:p.Pro452Leu
NM_003242.5:c.1280C>T VV NP_003233.4:p.Pro427Leu
XM_011534043.1:c.1307C>T XP_011532345.1:p.Pro436Leu
XM_011534044.1:c.1232C>T XP_011532346.1:p.Pro411Leu
XM_011534045.1:c.1175C>T XP_011532347.1:p.Pro392Leu
XM_011534043.2:c.1307C>T XP_011532345.1:p.Pro436Leu
XM_011534045.3:c.1175C>T XP_011532347.1:p.Pro392Leu
XM_017007106.1:c.1175C>T XP_016862595.1:p.Pro392Leu
NM_003242.6:c.1280C>T VV MANE Preferred NP_003233.4:p.Pro427Leu
ENST00000295754.9:c.1280C>T ENSP00000295754.5:p.Pro427Leu
ENST00000359013.4:c.1355C>T ENSP00000351905.4:p.Pro452Leu