Canonical Allele Identifier: CA1750624370
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132464A= , CM000669.2:g.147132464A= GRCh38
NC_000007.13:g.146829556A= , CM000669.1:g.146829556A= GRCh37
NC_000007.12:g.146460489A= NCBI36
NG_007092.2:g.1021104A=
NG_007092.3:g.1021464A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1303A= MANE Select ENSP00000354778.3:p.Ile435=
ENST00000636561.1:n.1206A=
ENST00000636870.1:n.1165A=
ENST00000637150.1:n.1232A=
ENST00000637694.1:n.1206A=
ENST00000637825.1:n.786A=
ENST00000638117.1:n.1206A=
ENST00000361727.7:c.1303A= ENSP00000354778.3:p.Ile435=
NM_014141.5:c.1303A= NP_054860.1:p.Ile435=
XM_017011950.2:c.1303A= XP_016867439.1:p.Ile435=
NM_014141.6:c.1303A= MANE Select NP_054860.1:p.Ile435=