LDH info

Canonical Allele Identifier: CA212835
Gene: CNTNAP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5492
ClinVar RCV Id: RCV000005827
dbSNP Id: rs7794745

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792514A>T , CM000669.2:g.146792514A>T GRCh38
NC_000007.13:g.146489606A>T , CM000669.1:g.146489606A>T GRCh37
NC_000007.12:g.146120539A>T NCBI36
NG_007092.2:g.681154A>T
NG_007092.3:g.681514A>T

Transcript Alleles

HGVS Amino-acid change
NM_014141.5:c.208+18133A>T VV NP_054860.1:p.=
XM_017011950.2:c.208+18133A>T XP_016867439.1:p.=
NM_014141.6:c.208+18133A>T VV MANE Preferred NP_054860.1:p.=
ENST00000361727.7:c.208+18133A>T ENSP00000354778.3:p.=
ENST00000625365.2:c.208+18133A>T ENSP00000485955.1:p.=