Canonical Allele Identifier: CA2552881843

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128902T>C , CM000669.2:g.147128902T>C	GRCh38
NC_000007.13:g.146825994T>C , CM000669.1:g.146825994T>C	GRCh37
NC_000007.12:g.146456927T>C	NCBI36
NG_007092.2:g.1017542T>C
NG_007092.3:g.1017902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1083+66T>C MANE Select	ENSP00000354778.3:n.1083+66T>C
ENST00000636561.1:n.986+66T>C
ENST00000636870.1:n.945+66T>C
ENST00000637150.1:n.1012+66T>C
ENST00000637694.1:n.986+66T>C
ENST00000637825.1:n.566+66T>C
ENST00000638117.1:n.986+66T>C
ENST00000361727.7:c.1083+66T>C	ENSP00000354778.3:n.1083+66T>C
NM_014141.5:c.1083+66T>C	NP_054860.1:n.1083+66T>C
XM_017011950.2:c.1083+66T>C	XP_016867439.1:n.1083+66T>C
NM_014141.6:c.1083+66T>C MANE Select	NP_054860.1:n.1083+66T>C