LDH info

Canonical Allele Identifier: CA218805
Gene: KCNE2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6054
dbSNP Id: rs74315448

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370648T>C , CM000683.2:g.34370648T>C GRCh38
NC_000021.8:g.35742947T>C , CM000683.1:g.35742947T>C GRCh37
NC_000021.7:g.34664817T>C NCBI36
NG_008804.1:g.11625T>C , LRG_291:g.11625T>C

Transcript Alleles

HGVS Amino-acid change
NM_172201.1:c.170T>C , LRG_291t1:c.170T>C NP_751951.1:p.Ile57Thr
XR_937683.1:n.673A>G
XR_937684.1:n.673A>G
XR_001755012.2:n.794A>G
XR_001755013.2:n.673A>G
XR_937683.2:n.673A>G
ENST00000290310.3:c.170T>C ENSP00000290310.2:p.Ile57Thr