Canonical Allele Identifier: CA1750749638
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147395673G= , CM000669.2:g.147395673G= GRCh38
NC_000007.13:g.147092765G= , CM000669.1:g.147092765G= GRCh37
NC_000007.12:g.146723698G= NCBI36
NG_007092.2:g.1284313G=
NG_007092.3:g.1284673G=

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1563G= MANE Select ENSP00000354778.3:p.Met521=
ENST00000636870.1:n.1425G=
ENST00000637694.1:n.1466G=
ENST00000637825.1:n.1046G=
ENST00000638117.1:n.1466G=
ENST00000361727.7:c.1563G= ENSP00000354778.3:p.Met521=
NM_014141.5:c.1563G= NP_054860.1:p.Met521=
XM_006715919.1:c.51G= XP_006715982.1:p.Met17=
XM_017011950.2:c.1563G= XP_016867439.1:p.Met521=
NM_014141.6:c.1563G= MANE Select NP_054860.1:p.Met521=