Canonical Allele Identifier: CA458496714

Gene: CNTNAP2

Linked Data

• COSMIC: COSM5528881
• MyVariant Identifiers: chr7:g.146825904G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128812G>A , CM000669.2:g.147128812G>A	GRCh38
NC_000007.13:g.146825904G>A , CM000669.1:g.146825904G>A	GRCh37
NC_000007.12:g.146456837G>A	NCBI36
NG_007092.2:g.1017452G>A
NG_007092.3:g.1017812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1059G>A MANE Select	ENSP00000354778.3:p.Arg353=
ENST00000636561.1:n.962G>A
ENST00000636870.1:n.921G>A
ENST00000637150.1:n.988G>A
ENST00000637694.1:n.962G>A
ENST00000637825.1:n.542G>A
ENST00000638117.1:n.962G>A
ENST00000361727.7:c.1059G>A	ENSP00000354778.3:p.Arg353=
NM_014141.5:c.1059G>A	NP_054860.1:p.Arg353=
XM_017011950.2:c.1059G>A	XP_016867439.1:p.Arg353=
NM_014141.6:c.1059G>A MANE Select	NP_054860.1:p.Arg353=