LDH info

Canonical Allele Identifier: CA12550308
Gene: CNTNAP2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10246256

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147857715C>T , CM000669.2:g.147857715C>T GRCh38
NC_000007.13:g.147554807C>T , CM000669.1:g.147554807C>T GRCh37
NC_000007.12:g.147185740C>T NCBI36
NG_007092.2:g.1746355C>T
NG_007092.3:g.1746715C>T

Transcript Alleles

HGVS Amino-acid change
NM_014141.5:c.2099-45850C>T VV NP_054860.1:p.=
XM_006715919.1:c.587-45850C>T XP_006715982.1:p.=
NM_014141.6:c.2099-45850C>T VV MANE Preferred NP_054860.1:p.=
ENST00000361727.7:c.2099-45850C>T ENSP00000354778.3:p.=
ENST00000455301.2:n.34-45850C>T
ENST00000627772.2:n.272-45850C>T