Canonical Allele Identifier: CA1750624323
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132441C= , CM000669.2:g.147132441C= GRCh38
NC_000007.13:g.146829533C= , CM000669.1:g.146829533C= GRCh37
NC_000007.12:g.146460466C= NCBI36
NG_007092.2:g.1021081C=
NG_007092.3:g.1021441C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1280C= MANE Select ENSP00000354778.3:p.Thr427=
ENST00000636561.1:n.1183C=
ENST00000636870.1:n.1142C=
ENST00000637150.1:n.1209C=
ENST00000637694.1:n.1183C=
ENST00000637825.1:n.763C=
ENST00000638117.1:n.1183C=
ENST00000361727.7:c.1280C= ENSP00000354778.3:p.Thr427=
NM_014141.5:c.1280C= NP_054860.1:p.Thr427=
XM_017011950.2:c.1280C= XP_016867439.1:p.Thr427=
NM_014141.6:c.1280C= MANE Select NP_054860.1:p.Thr427=