Canonical Allele Identifier: CA1750619780
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128761C= , CM000669.2:g.147128761C= GRCh38
NC_000007.13:g.146825853C= , CM000669.1:g.146825853C= GRCh37
NC_000007.12:g.146456786C= NCBI36
NG_007092.2:g.1017401C=
NG_007092.3:g.1017761C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1008C= MANE Select ENSP00000354778.3:p.Cys336=
ENST00000636561.1:n.911C=
ENST00000636870.1:n.870C=
ENST00000637150.1:n.937C=
ENST00000637694.1:n.911C=
ENST00000637825.1:n.491C=
ENST00000638117.1:n.911C=
ENST00000361727.7:c.1008C= ENSP00000354778.3:p.Cys336=
NM_014141.5:c.1008C= NP_054860.1:p.Cys336=
XM_017011950.2:c.1008C= XP_016867439.1:p.Cys336=
NM_014141.6:c.1008C= MANE Select NP_054860.1:p.Cys336=