Canonical Allele Identifier: CA369924673

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132351-T-A
• MyVariant Identifiers: chr7:g.146829443T>A (hg19) ; chr7:g.147132351T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132351T>A , CM000669.2:g.147132351T>A	GRCh38
NC_000007.13:g.146829443T>A , CM000669.1:g.146829443T>A	GRCh37
NC_000007.12:g.146460376T>A	NCBI36
NG_007092.2:g.1020991T>A
NG_007092.3:g.1021351T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1190T>A MANE Select	ENSP00000354778.3:p.Val397Asp
ENST00000636561.1:n.1093T>A
ENST00000636870.1:n.1052T>A
ENST00000637150.1:n.1119T>A
ENST00000637694.1:n.1093T>A
ENST00000637825.1:n.673T>A
ENST00000638117.1:n.1093T>A
ENST00000361727.7:c.1190T>A	ENSP00000354778.3:p.Val397Asp
NM_014141.5:c.1190T>A	NP_054860.1:p.Val397Asp
XM_017011950.2:c.1190T>A	XP_016867439.1:p.Val397Asp
NM_014141.6:c.1190T>A MANE Select	NP_054860.1:p.Val397Asp