Canonical Allele Identifier: CA285681

Gene: CNTNAP2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147903619G>A , CM000669.2:g.147903619G>A	GRCh38
NC_000007.13:g.147600711G>A , CM000669.1:g.147600711G>A	GRCh37
NC_000007.12:g.147231644G>A	NCBI36
NG_007092.2:g.1792259G>A
NG_007092.3:g.1792619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2153G>A MANE Select	ENSP00000354778.3:p.Trp718Ter
ENST00000636755.1:n.100G>A
ENST00000636870.1:n.2015G>A
ENST00000637825.1:n.1636G>A
ENST00000361727.7:c.2153G>A	ENSP00000354778.3:p.Trp718Ter
ENST00000455301.2:n.88G>A
ENST00000627772.2:n.326G>A
NM_014141.5:c.2153G>A	NP_054860.1:p.Trp718Ter
XM_006715919.1:c.641G>A	XP_006715982.1:p.Trp214Ter
NM_014141.6:c.2153G>A MANE Select	NP_054860.1:p.Trp718Ter