Canonical Allele Identifier: CA369924867

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829533C>A (hg19) ; chr7:g.147132441C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132441C>A , CM000669.2:g.147132441C>A	GRCh38
NC_000007.13:g.146829533C>A , CM000669.1:g.146829533C>A	GRCh37
NC_000007.12:g.146460466C>A	NCBI36
NG_007092.2:g.1021081C>A
NG_007092.3:g.1021441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1280C>A MANE Select	ENSP00000354778.3:p.Thr427Asn
ENST00000636561.1:n.1183C>A
ENST00000636870.1:n.1142C>A
ENST00000637150.1:n.1209C>A
ENST00000637694.1:n.1183C>A
ENST00000637825.1:n.763C>A
ENST00000638117.1:n.1183C>A
ENST00000361727.7:c.1280C>A	ENSP00000354778.3:p.Thr427Asn
NM_014141.5:c.1280C>A	NP_054860.1:p.Thr427Asn
XM_017011950.2:c.1280C>A	XP_016867439.1:p.Thr427Asn
NM_014141.6:c.1280C>A MANE Select	NP_054860.1:p.Thr427Asn