Canonical Allele Identifier: CA1750805189

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491540C= , CM000669.2:g.147491540C=	GRCh38
NC_000007.13:g.147188632C= , CM000669.1:g.147188632C=	GRCh37
NC_000007.12:g.146819565C=	NCBI36
NG_007092.2:g.1380180C=
NG_007092.3:g.1380540C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1777+5499C= MANE Select	ENSP00000354778.3:n.1777+5499C=
ENST00000636870.1:n.1639+5499C=
ENST00000637694.1:n.1681-5081C=
ENST00000637825.1:n.1260+5499C=
ENST00000638117.1:n.1680+5499C=
ENST00000361727.7:c.1777+5499C=	ENSP00000354778.3:n.1777+5499C=
NM_014141.5:c.1777+5499C=	NP_054860.1:n.1777+5499C=
XM_006715919.1:c.265+5499C=	XP_006715982.1:n.265+5499C=
XM_017011950.2:c.1777+5499C=	XP_016867439.1:n.1777+5499C=
NM_014141.6:c.1777+5499C= MANE Select	NP_054860.1:n.1777+5499C=