LDH info

Canonical Allele Identifier: CA5643849
Gene: ABCC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 298467
ClinVar RCV Id: RCV000288970
dbSNP Id: rs17222723

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836239T>A , CM000672.2:g.99836239T>A GRCh38
NC_000010.10:g.101595996T>A , CM000672.1:g.101595996T>A GRCh37
NC_000010.9:g.101585986T>A NCBI36
NG_011798.1:g.58534T>A
NG_011798.2:g.58642T>A

Transcript Alleles

HGVS Amino-acid change
NM_000392.4:c.3563T>A VV NP_000383.1:p.Val1188Glu
XM_006717630.2:c.2867T>A XP_006717693.1:p.Val956Glu
XR_945604.1:n.3752T>A
XR_945605.1:n.3754T>A
NM_000392.5:c.3563T>A VV NP_000383.2:p.Val1188Glu
XM_006717630.3:c.2867T>A XP_006717693.1:p.Val956Glu
XR_945604.3:n.3806T>A
XR_945605.3:n.3806T>A
ENST00000370449.8:c.3563T>A ENSP00000359478.4:p.Val1188Glu