LDH info

Canonical Allele Identifier: CA2416244
Gene: HYAL2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs781999115

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50319741G>A , CM000665.2:g.50319741G>A GRCh38
NC_000003.11:g.50357172G>A , CM000665.1:g.50357172G>A GRCh37
NC_000003.10:g.50332176G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_003773.4:c.749C>T VV NP_003764.3:p.Pro250Leu
NM_033158.4:c.749C>T VV NP_149348.2:p.Pro250Leu
XM_005265524.1:c.749C>T XP_005265581.1:p.Pro250Leu
XM_005265525.1:c.749C>T XP_005265582.1:p.Pro250Leu
XM_005265524.2:c.749C>T XP_005265581.1:p.Pro250Leu
XM_005265525.2:c.749C>T XP_005265582.1:p.Pro250Leu
NM_003773.5:c.749C>T VV MANE Preferred NP_003764.3:p.Pro250Leu
ENST00000357750.8:c.749C>T ENSP00000350387.4:p.Pro250Leu
ENST00000395139.7:c.749C>T ENSP00000378571.3:p.Pro250Leu
ENST00000442581.1:c.749C>T ENSP00000406657.1:p.Pro250Leu
ENST00000447092.5:c.749C>T ENSP00000401853.1:p.Pro250Leu
ENST00000481597.5:n.884C>T