Canonical Allele Identifier: CA458577985

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132341-C-T
• MyVariant Identifiers: chr7:g.146829433C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132341C>T , CM000669.2:g.147132341C>T	GRCh38
NC_000007.13:g.146829433C>T , CM000669.1:g.146829433C>T	GRCh37
NC_000007.12:g.146460366C>T	NCBI36
NG_007092.2:g.1020981C>T
NG_007092.3:g.1021341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1180C>T MANE Select	ENSP00000354778.3:p.Leu394=
ENST00000636561.1:n.1083C>T
ENST00000636870.1:n.1042C>T
ENST00000637150.1:n.1109C>T
ENST00000637694.1:n.1083C>T
ENST00000637825.1:n.663C>T
ENST00000638117.1:n.1083C>T
ENST00000361727.7:c.1180C>T	ENSP00000354778.3:p.Leu394=
NM_014141.5:c.1180C>T	NP_054860.1:p.Leu394=
XM_017011950.2:c.1180C>T	XP_016867439.1:p.Leu394=
NM_014141.6:c.1180C>T MANE Select	NP_054860.1:p.Leu394=