Canonical Allele Identifier: CA458577834

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829381C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132289C>T , CM000669.2:g.147132289C>T	GRCh38
NC_000007.13:g.146829381C>T , CM000669.1:g.146829381C>T	GRCh37
NC_000007.12:g.146460314C>T	NCBI36
NG_007092.2:g.1020929C>T
NG_007092.3:g.1021289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1128C>T MANE Select	ENSP00000354778.3:p.Val376=
ENST00000636561.1:n.1031C>T
ENST00000636870.1:n.990C>T
ENST00000637150.1:n.1057C>T
ENST00000637694.1:n.1031C>T
ENST00000637825.1:n.611C>T
ENST00000638117.1:n.1031C>T
ENST00000361727.7:c.1128C>T	ENSP00000354778.3:p.Val376=
NM_014141.5:c.1128C>T	NP_054860.1:p.Val376=
XM_017011950.2:c.1128C>T	XP_016867439.1:p.Val376=
NM_014141.6:c.1128C>T MANE Select	NP_054860.1:p.Val376=