Canonical Allele Identifier: CA652284190

Gene: CNTNAP2

Linked Data

• COSMIC: COSN24601216

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571103G>A , CM000669.2:g.147571103G>A	GRCh38
NC_000007.13:g.147268195G>A , CM000669.1:g.147268195G>A	GRCh37
NC_000007.12:g.146899128G>A	NCBI36
NG_007092.2:g.1459743G>A
NG_007092.3:g.1460103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8846G>A MANE Select	ENSP00000354778.3:n.1897+8846G>A
ENST00000636870.1:n.1759+8846G>A
ENST00000637825.1:n.1380+8846G>A
ENST00000638117.1:n.1800+8846G>A
ENST00000361727.7:c.1897+8846G>A	ENSP00000354778.3:n.1897+8846G>A
NM_014141.5:c.1897+8846G>A	NP_054860.1:n.1897+8846G>A
XM_006715919.1:c.385+8846G>A	XP_006715982.1:n.385+8846G>A
XM_017011950.2:c.1897+8846G>A	XP_016867439.1:n.1897+8846G>A
NM_014141.6:c.1897+8846G>A MANE Select	NP_054860.1:n.1897+8846G>A