Canonical Allele Identifier: CA369924701

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829455T>A (hg19) ; chr7:g.147132363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132363T>A , CM000669.2:g.147132363T>A	GRCh38
NC_000007.13:g.146829455T>A , CM000669.1:g.146829455T>A	GRCh37
NC_000007.12:g.146460388T>A	NCBI36
NG_007092.2:g.1021003T>A
NG_007092.3:g.1021363T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1202T>A MANE Select	ENSP00000354778.3:p.Phe401Tyr
ENST00000636561.1:n.1105T>A
ENST00000636870.1:n.1064T>A
ENST00000637150.1:n.1131T>A
ENST00000637694.1:n.1105T>A
ENST00000637825.1:n.685T>A
ENST00000638117.1:n.1105T>A
ENST00000361727.7:c.1202T>A	ENSP00000354778.3:p.Phe401Tyr
NM_014141.5:c.1202T>A	NP_054860.1:p.Phe401Tyr
XM_017011950.2:c.1202T>A	XP_016867439.1:p.Phe401Tyr
NM_014141.6:c.1202T>A MANE Select	NP_054860.1:p.Phe401Tyr