Canonical Allele Identifier: CA1750619935
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128836G= , CM000669.2:g.147128836G= GRCh38
NC_000007.13:g.146825928G= , CM000669.1:g.146825928G= GRCh37
NC_000007.12:g.146456861G= NCBI36
NG_007092.2:g.1017476G=
NG_007092.3:g.1017836G=

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1083G= MANE Select ENSP00000354778.3:p.Val361=
ENST00000636561.1:n.986G=
ENST00000636870.1:n.945G=
ENST00000637150.1:n.1012G=
ENST00000637694.1:n.986G=
ENST00000637825.1:n.566G=
ENST00000638117.1:n.986G=
ENST00000361727.7:c.1083G= ENSP00000354778.3:p.Val361=
NM_014141.5:c.1083G= NP_054860.1:p.Val361=
XM_017011950.2:c.1083G= XP_016867439.1:p.Val361=
NM_014141.6:c.1083G= MANE Select NP_054860.1:p.Val361=