Canonical Allele Identifier: CA369924651

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829433C>A (hg19) ; chr7:g.147132341C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1180C>A MANE Select	ENSP00000354778.3:p.Leu394Met
ENST00000636561.1:n.1083C>A
ENST00000636870.1:n.1042C>A
ENST00000637150.1:n.1109C>A
ENST00000637694.1:n.1083C>A
ENST00000637825.1:n.663C>A
ENST00000638117.1:n.1083C>A
ENST00000361727.7:c.1180C>A	ENSP00000354778.3:p.Leu394Met
NM_014141.5:c.1180C>A	NP_054860.1:p.Leu394Met
XM_017011950.2:c.1180C>A	XP_016867439.1:p.Leu394Met
NM_014141.6:c.1180C>A MANE Select	NP_054860.1:p.Leu394Met