Canonical Allele Identifier: CA369924351

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1722253
• ClinVar RCV Id: RCV002295265
• MyVariant Identifiers: chr7:g.146825888C>A (hg19) ; chr7:g.147128796C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128796C>A , CM000669.2:g.147128796C>A	GRCh38
NC_000007.13:g.146825888C>A , CM000669.1:g.146825888C>A	GRCh37
NC_000007.12:g.146456821C>A	NCBI36
NG_007092.2:g.1017436C>A
NG_007092.3:g.1017796C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1043C>A MANE Select	ENSP00000354778.3:p.Thr348Asn
ENST00000636561.1:n.946C>A
ENST00000636870.1:n.905C>A
ENST00000637150.1:n.972C>A
ENST00000637694.1:n.946C>A
ENST00000637825.1:n.526C>A
ENST00000638117.1:n.946C>A
ENST00000361727.7:c.1043C>A	ENSP00000354778.3:p.Thr348Asn
NM_014141.5:c.1043C>A	NP_054860.1:p.Thr348Asn
XM_017011950.2:c.1043C>A	XP_016867439.1:p.Thr348Asn
NM_014141.6:c.1043C>A MANE Select	NP_054860.1:p.Thr348Asn