LDH info

Canonical Allele Identifier: CA12487189
Gene: CNTNAP2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10273775

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200311A>G , CM000669.2:g.147200311A>G GRCh38
NC_000007.13:g.146897403A>G , CM000669.1:g.146897403A>G GRCh37
NC_000007.12:g.146528336A>G NCBI36
NG_007092.2:g.1088951A>G
NG_007092.3:g.1089311A>G

Transcript Alleles

HGVS Amino-acid change
NM_014141.5:c.1348+67802A>G VV NP_054860.1:p.=
XM_017011950.2:c.1348+67802A>G XP_016867439.1:p.=
NM_014141.6:c.1348+67802A>G VV MANE Preferred NP_054860.1:p.=
ENST00000361727.7:c.1348+67802A>G ENSP00000354778.3:p.=