LDH info

Canonical Allele Identifier: CA3654542
Gene: DCDC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 517825
ClinVar RCV Id: RCV000605831
dbSNP Id: rs9467075

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24205008G>A , CM000668.2:g.24205008G>A GRCh38
NC_000006.11:g.24205236G>A , CM000668.1:g.24205236G>A GRCh37
NC_000006.10:g.24313215G>A NCBI36
NG_012829.1:g.158045C>T
NG_012829.2:g.183285C>T

Transcript Alleles

HGVS Amino-acid change
NM_001195610.1:c.1017C>T VV NP_001182539.1:p.Val339=
NM_016356.4:c.1017C>T VV NP_057440.2:p.Val339=
NM_016356.5:c.1017C>T VV MANE Preferred NP_057440.2:p.Val339=
ENST00000378450.6:c.276C>T ENSP00000367711.3:p.Val92=
ENST00000378454.7:c.1017C>T ENSP00000367715.3:p.Val339=