Canonical Allele Identifier: CA1750805195
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147491550C= , CM000669.2:g.147491550C= GRCh38
NC_000007.13:g.147188642C= , CM000669.1:g.147188642C= GRCh37
NC_000007.12:g.146819575C= NCBI36
NG_007092.2:g.1380190C=
NG_007092.3:g.1380550C=

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1777+5509C= MANE Select ENSP00000354778.3:n.1777+5509C=
ENST00000636870.1:n.1639+5509C=
ENST00000637694.1:n.1681-5071C=
ENST00000637825.1:n.1260+5509C=
ENST00000638117.1:n.1680+5509C=
ENST00000361727.7:c.1777+5509C= ENSP00000354778.3:n.1777+5509C=
NM_014141.5:c.1777+5509C= NP_054860.1:n.1777+5509C=
XM_006715919.1:c.265+5509C= XP_006715982.1:n.265+5509C=
XM_017011950.2:c.1777+5509C= XP_016867439.1:n.1777+5509C=
NM_014141.6:c.1777+5509C= MANE Select NP_054860.1:n.1777+5509C=