Canonical Allele Identifier: CA1750623704
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132248A= , CM000669.2:g.147132248A= GRCh38
NC_000007.13:g.146829340A= , CM000669.1:g.146829340A= GRCh37
NC_000007.12:g.146460273A= NCBI36
NG_007092.2:g.1020888A=
NG_007092.3:g.1021248A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1087A= MANE Select ENSP00000354778.3:p.Asn363=
ENST00000636561.1:n.990A=
ENST00000636870.1:n.949A=
ENST00000637150.1:n.1016A=
ENST00000637694.1:n.990A=
ENST00000637825.1:n.570A=
ENST00000638117.1:n.990A=
ENST00000361727.7:c.1087A= ENSP00000354778.3:p.Asn363=
NM_014141.5:c.1087A= NP_054860.1:p.Asn363=
XM_017011950.2:c.1087A= XP_016867439.1:p.Asn363=
NM_014141.6:c.1087A= MANE Select NP_054860.1:p.Asn363=