Canonical Allele Identifier: CA1750992847
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882743C= , CM000669.2:g.147882743C= GRCh38
NC_000007.13:g.147579835C= , CM000669.1:g.147579835C= GRCh37
NC_000007.12:g.147210768C= NCBI36
NG_007092.2:g.1771383C=
NG_007092.3:g.1771743C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-20822C= MANE Select ENSP00000354778.3:n.2099-20822C=
ENST00000636870.1:n.1961-20822C=
ENST00000637825.1:n.1582-20822C=
ENST00000361727.7:c.2099-20822C= ENSP00000354778.3:n.2099-20822C=
ENST00000455301.2:n.34-20822C=
ENST00000627772.2:n.272-20822C=
NM_014141.5:c.2099-20822C= NP_054860.1:n.2099-20822C=
XM_006715919.1:c.587-20822C= XP_006715982.1:n.587-20822C=
NM_014141.6:c.2099-20822C= MANE Select NP_054860.1:n.2099-20822C=