Canonical Allele Identifier: CA369924760

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1755733
• ClinVar RCV Id: RCV002362066
• MyVariant Identifiers: chr7:g.146829484G>A (hg19) ; chr7:g.147132392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132392G>A , CM000669.2:g.147132392G>A	GRCh38
NC_000007.13:g.146829484G>A , CM000669.1:g.146829484G>A	GRCh37
NC_000007.12:g.146460417G>A	NCBI36
NG_007092.2:g.1021032G>A
NG_007092.3:g.1021392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1231G>A MANE Select	ENSP00000354778.3:p.Val411Ile
ENST00000636561.1:n.1134G>A
ENST00000636870.1:n.1093G>A
ENST00000637150.1:n.1160G>A
ENST00000637694.1:n.1134G>A
ENST00000637825.1:n.714G>A
ENST00000638117.1:n.1134G>A
ENST00000361727.7:c.1231G>A	ENSP00000354778.3:p.Val411Ile
NM_014141.5:c.1231G>A	NP_054860.1:p.Val411Ile
XM_017011950.2:c.1231G>A	XP_016867439.1:p.Val411Ile
NM_014141.6:c.1231G>A MANE Select	NP_054860.1:p.Val411Ile