Canonical Allele Identifier: CA2512214872

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904738T>C , CM000669.2:g.147904738T>C	GRCh38
NC_000007.13:g.147601830T>C , CM000669.1:g.147601830T>C	GRCh37
NC_000007.12:g.147232763T>C	NCBI36
NG_007092.2:g.1793378T>C
NG_007092.3:g.1793738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+1017T>C MANE Select	ENSP00000354778.3:n.2255+1017T>C
ENST00000636870.1:n.2117+1017T>C
ENST00000637825.1:n.1738+1017T>C
ENST00000361727.7:c.2255+1017T>C	ENSP00000354778.3:n.2255+1017T>C
ENST00000455301.2:n.190+1017T>C
ENST00000627772.2:n.428+1017T>C
NM_014141.5:c.2255+1017T>C	NP_054860.1:n.2255+1017T>C
XM_006715919.1:c.743+1017T>C	XP_006715982.1:n.743+1017T>C
NM_014141.6:c.2255+1017T>C MANE Select	NP_054860.1:n.2255+1017T>C