Canonical Allele Identifier: CA1750805773
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147492685C= , CM000669.2:g.147492685C= GRCh38
NC_000007.13:g.147189777C= , CM000669.1:g.147189777C= GRCh37
NC_000007.12:g.146820710C= NCBI36
NG_007092.2:g.1381325C=
NG_007092.3:g.1381685C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1777+6644C= MANE Select ENSP00000354778.3:n.1777+6644C=
ENST00000636870.1:n.1639+6644C=
ENST00000637694.1:n.1681-3936C=
ENST00000637825.1:n.1260+6644C=
ENST00000638117.1:n.1680+6644C=
ENST00000361727.7:c.1777+6644C= ENSP00000354778.3:n.1777+6644C=
NM_014141.5:c.1777+6644C= NP_054860.1:n.1777+6644C=
XM_006715919.1:c.265+6644C= XP_006715982.1:n.265+6644C=
XM_017011950.2:c.1777+6644C= XP_016867439.1:n.1777+6644C=
NM_014141.6:c.1777+6644C= MANE Select NP_054860.1:n.1777+6644C=