Canonical Allele Identifier: CA1750654776
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200136C= , CM000669.2:g.147200136C= GRCh38
NC_000007.13:g.146897228C= , CM000669.1:g.146897228C= GRCh37
NC_000007.12:g.146528161C= NCBI36
NG_007092.2:g.1088776C=
NG_007092.3:g.1089136C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+67627C= MANE Select ENSP00000354778.3:n.1348+67627C=
ENST00000636870.1:n.1210+67627C=
ENST00000637694.1:n.1251+67627C=
ENST00000637825.1:n.831+67627C=
ENST00000638117.1:n.1251+67627C=
ENST00000361727.7:c.1348+67627C= ENSP00000354778.3:n.1348+67627C=
NM_014141.5:c.1348+67627C= NP_054860.1:n.1348+67627C=
XM_017011950.2:c.1348+67627C= XP_016867439.1:n.1348+67627C=
NM_014141.6:c.1348+67627C= MANE Select NP_054860.1:n.1348+67627C=